Perić, Jelena

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Authority KeyName Variants
orcid::0000-0001-5061-5458
  • Perić, Jelena (12)
  • Kostić, Jelena (4)
  • Kostić Perić, Jelena (3)

Author's Bibliography

Genetic determinants of response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer identified by whole exome sequencing

Perić, Jelena; Pavlović, Dunja; Dragičević, Sandra; Miladinov, Marko; Djikić-Rom, Aleksandra; Bjelanović, Jasna; Kovač, Jelena; Despotović, Jovana; Babić, Tamara; Rosic, Jovana; Dimitrijević, Ivan; Marković, Velimir; Barisic, Goran; Nikolić, Aleksandra

(2023)

TY  - CONF
AU  - Perić, Jelena
AU  - Pavlović, Dunja
AU  - Dragičević, Sandra
AU  - Miladinov, Marko
AU  - Djikić-Rom, Aleksandra
AU  - Bjelanović, Jasna
AU  - Kovač, Jelena
AU  - Despotović, Jovana
AU  - Babić, Tamara
AU  - Rosic, Jovana
AU  - Dimitrijević, Ivan
AU  - Marković, Velimir
AU  - Barisic, Goran
AU  - Nikolić, Aleksandra
PY  - 2023
UR  - https://2023.eshg.org/
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2061
AB  - The cornerstone in the treatment of locally advanced rectal cancer (LARC) is neoadjuvant
chemoradiotherapy (nCRT) followed by total mesorectal excision. Reliable predictors of
response to nCRT in LARC remain an unmet need in colorectal cancer research. This study
used high throughput DNA analysis to investigate genetic differences between highly
responsive tumors and tumors resistant to nCRT.
C3  - ESHG 2023
T1  - Genetic determinants of response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer identified by whole exome sequencing
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2061
ER  - 
@conference{
author = "Perić, Jelena and Pavlović, Dunja and Dragičević, Sandra and Miladinov, Marko and Djikić-Rom, Aleksandra and Bjelanović, Jasna and Kovač, Jelena and Despotović, Jovana and Babić, Tamara and Rosic, Jovana and Dimitrijević, Ivan and Marković, Velimir and Barisic, Goran and Nikolić, Aleksandra",
year = "2023",
abstract = "The cornerstone in the treatment of locally advanced rectal cancer (LARC) is neoadjuvant
chemoradiotherapy (nCRT) followed by total mesorectal excision. Reliable predictors of
response to nCRT in LARC remain an unmet need in colorectal cancer research. This study
used high throughput DNA analysis to investigate genetic differences between highly
responsive tumors and tumors resistant to nCRT.",
journal = "ESHG 2023",
title = "Genetic determinants of response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer identified by whole exome sequencing",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2061"
}
Perić, J., Pavlović, D., Dragičević, S., Miladinov, M., Djikić-Rom, A., Bjelanović, J., Kovač, J., Despotović, J., Babić, T., Rosic, J., Dimitrijević, I., Marković, V., Barisic, G.,& Nikolić, A.. (2023). Genetic determinants of response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer identified by whole exome sequencing. in ESHG 2023.
https://hdl.handle.net/21.15107/rcub_imagine_2061
Perić J, Pavlović D, Dragičević S, Miladinov M, Djikić-Rom A, Bjelanović J, Kovač J, Despotović J, Babić T, Rosic J, Dimitrijević I, Marković V, Barisic G, Nikolić A. Genetic determinants of response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer identified by whole exome sequencing. in ESHG 2023. 2023;.
https://hdl.handle.net/21.15107/rcub_imagine_2061 .
Perić, Jelena, Pavlović, Dunja, Dragičević, Sandra, Miladinov, Marko, Djikić-Rom, Aleksandra, Bjelanović, Jasna, Kovač, Jelena, Despotović, Jovana, Babić, Tamara, Rosic, Jovana, Dimitrijević, Ivan, Marković, Velimir, Barisic, Goran, Nikolić, Aleksandra, "Genetic determinants of response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer identified by whole exome sequencing" in ESHG 2023 (2023),
https://hdl.handle.net/21.15107/rcub_imagine_2061 .

Detection of preleukemic clones in neonatal blood spots of children with B-cell precursor acute lymphoblastic leukemia

Karan-Đurašević, Teodora; Kaćanski, Nataša; Kostić, Tatjana; Marjanović, Irena; Tošić, Nataša; Perić, Jelena; Kolarović, Jovanka; Janić, Dragana; Pavlović, Sonja

(Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, 2023)

TY  - CONF
AU  - Karan-Đurašević, Teodora
AU  - Kaćanski, Nataša
AU  - Kostić, Tatjana
AU  - Marjanović, Irena
AU  - Tošić, Nataša
AU  - Perić, Jelena
AU  - Kolarović, Jovanka
AU  - Janić, Dragana
AU  - Pavlović, Sonja
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2113
AB  - Introduction: Childhood B-cell precursor acute lymphoblastic leukemic (BCP-ALL) can be traced back to
birth using leukemic clone-specific immunoglobulin heavy chain (IGH) rearrangements, implying prenatal origin of this disease. The aim of this study was to analyze neonatal blood spots (Guthrie cards) of
childhood BCP-ALL patients for the presence of clonotypic IGH rearrangements.
Methods: The study enrolled 24 patients aged 1 to 9.6 years. Based on the sequences of IGH rearrangements identified in diagnostic lymphoblasts, 2 patient-specific primers were designed for each patient
and used in semi-nested PCR for the detection of preleukemic clones at birth.
Results: Clonotypic IGH rearrangements were detected in neonatal blood spots of 54.2% of patients. In
two cases that had double IGH rearrangements at diagnosis, only one rearrangement was present at
birth, while in the third case both leukemic rearrangements were detected in neonatal blood. Guthrie
card-positive findings were significantly more frequent in children ≤5 years of age than in older children
(p=0.011). Regarding patients’characteristics at birth and at diagnosis, Guthrie card-positivity was not associated with sex, birth weight and mother’s age, as well as with white blood cell count, percentage of
bone marrow blasts, immunophenotype and the presence of ETV6/RUNX1 and TCF3/PBX1 fusion genes
at diagnosis.
Conclusion: Our study confirms that a large proportion of childhood BCP-ALL originates in utero, regardless of the molecularsubtype defined by chromosomal aberrations. The latency period to the overt
leukemia depends on the presence of preleukemic clone at birth, as well as on the postnatal transforming genetic events.
PB  - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
C3  - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
T1  - Detection of preleukemic clones in neonatal blood spots of children with B-cell precursor acute lymphoblastic leukemia
EP  - 59
SP  - 59
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2113
ER  - 
@conference{
author = "Karan-Đurašević, Teodora and Kaćanski, Nataša and Kostić, Tatjana and Marjanović, Irena and Tošić, Nataša and Perić, Jelena and Kolarović, Jovanka and Janić, Dragana and Pavlović, Sonja",
year = "2023",
abstract = "Introduction: Childhood B-cell precursor acute lymphoblastic leukemic (BCP-ALL) can be traced back to
birth using leukemic clone-specific immunoglobulin heavy chain (IGH) rearrangements, implying prenatal origin of this disease. The aim of this study was to analyze neonatal blood spots (Guthrie cards) of
childhood BCP-ALL patients for the presence of clonotypic IGH rearrangements.
Methods: The study enrolled 24 patients aged 1 to 9.6 years. Based on the sequences of IGH rearrangements identified in diagnostic lymphoblasts, 2 patient-specific primers were designed for each patient
and used in semi-nested PCR for the detection of preleukemic clones at birth.
Results: Clonotypic IGH rearrangements were detected in neonatal blood spots of 54.2% of patients. In
two cases that had double IGH rearrangements at diagnosis, only one rearrangement was present at
birth, while in the third case both leukemic rearrangements were detected in neonatal blood. Guthrie
card-positive findings were significantly more frequent in children ≤5 years of age than in older children
(p=0.011). Regarding patients’characteristics at birth and at diagnosis, Guthrie card-positivity was not associated with sex, birth weight and mother’s age, as well as with white blood cell count, percentage of
bone marrow blasts, immunophenotype and the presence of ETV6/RUNX1 and TCF3/PBX1 fusion genes
at diagnosis.
Conclusion: Our study confirms that a large proportion of childhood BCP-ALL originates in utero, regardless of the molecularsubtype defined by chromosomal aberrations. The latency period to the overt
leukemia depends on the presence of preleukemic clone at birth, as well as on the postnatal transforming genetic events.",
publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade",
journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia",
title = "Detection of preleukemic clones in neonatal blood spots of children with B-cell precursor acute lymphoblastic leukemia",
pages = "59-59",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2113"
}
Karan-Đurašević, T., Kaćanski, N., Kostić, T., Marjanović, I., Tošić, N., Perić, J., Kolarović, J., Janić, D.,& Pavlović, S.. (2023). Detection of preleukemic clones in neonatal blood spots of children with B-cell precursor acute lymphoblastic leukemia. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 59-59.
https://hdl.handle.net/21.15107/rcub_imagine_2113
Karan-Đurašević T, Kaćanski N, Kostić T, Marjanović I, Tošić N, Perić J, Kolarović J, Janić D, Pavlović S. Detection of preleukemic clones in neonatal blood spots of children with B-cell precursor acute lymphoblastic leukemia. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia. 2023;:59-59.
https://hdl.handle.net/21.15107/rcub_imagine_2113 .
Karan-Đurašević, Teodora, Kaćanski, Nataša, Kostić, Tatjana, Marjanović, Irena, Tošić, Nataša, Perić, Jelena, Kolarović, Jovanka, Janić, Dragana, Pavlović, Sonja, "Detection of preleukemic clones in neonatal blood spots of children with B-cell precursor acute lymphoblastic leukemia" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia (2023):59-59,
https://hdl.handle.net/21.15107/rcub_imagine_2113 .

In Silico analysis and prediction of novel pharmacogenomic markers of pediatric ALL treatment

Gašić, Vladimir; Kotur, Nikola; Stanković, Biljana; Pavlović, Đorđe; Jelovac, Marina; Perić, Jelena; Ristivojević, Bojan; Pavlović, Sonja; Zukić, Branka

(Belgrade : Institute of molecular genetics and genetic engineering, 2023)

TY  - CONF
AU  - Gašić, Vladimir
AU  - Kotur, Nikola
AU  - Stanković, Biljana
AU  - Pavlović, Đorđe
AU  - Jelovac, Marina
AU  - Perić, Jelena
AU  - Ristivojević, Bojan
AU  - Pavlović, Sonja
AU  - Zukić, Branka
PY  - 2023
UR  - https://belbi.bg.ac.rs/
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2040
AB  - Acute lymphoblastic leukemia (ALL) is the most common childhood neoplasm. Side
effects of therapy occur in 75% of patients and 1-3% of patients have a lethal outcome due
to treatment. More efficient treatment of pediatric ALL has been developed by avoiding
drug adverse effects included in the treatment protocols. Therefore, implementation of
pharmacogenomics is paramount in pediatric ALL treatment. Next generation sequencing
(NGS) contributed to discovery of novel genetic markers, potential candidates for targeted
therapy and predictors of efficacy and toxicity of drugs.
We aimed to discover novel potential pharmacogenomic markers in pediatric ALL.
DNA samples from bone marrow of 17 pediatric ALL patients were analyzed using
the platform TruSeq Amplicon – Cancer Panel (Ilumina) for somatic mutations in 48
oncogenes. DNA samples from blood of 100 individuals, using the platform TruSightOne
(Ilumina), were analyzed for germinative mutations. An in-house virtual panel for GC
response markers was designed. Predicting the effects of novel variants was performed
using the SIFT, PolyPhen-2 and PROVEAN software tools. For protein structure stability
and modeling we used STRUM method and i-TASSER server.
In the NGS study of somatic mutations in pediatric ALL, 9 novel variants have been
identified. Bioinformatic analysis has shown that STK11 c.1023G>T and ERBB2 c.2341C>T
possess potential as pharmacogenomic markers, therefore, they are candidates for
molecular targeted therapy. In the exome sequencing study, according to the prediction
algorithms, 3 new potential markers in pharmacogenes related to GC response have been
identified, ABCB1 c.947A>G, NCOA3 rs138733364 and TBX21 rs14059812.
Using NGS analysis and prediction algorithms, we have detected 2 novel somatic mutations,
candidates for targeted molecular therapy, as well as 3 novel germinative variants,
potential pharmacogenomic markers of GC response in pediatric ALL. Pharmacogenomic
profiling of each pediatric ALL patient is indispensable for new therapy approaches and it
could lead to better outcomes.
PB  - Belgrade : Institute of molecular genetics and genetic engineering
C3  - 4th Belgrade Bioinformatics Conference
T1  - In Silico analysis and prediction of novel pharmacogenomic markers of pediatric ALL treatment
EP  - 95
SP  - 95
VL  - 4
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2040
ER  - 
@conference{
author = "Gašić, Vladimir and Kotur, Nikola and Stanković, Biljana and Pavlović, Đorđe and Jelovac, Marina and Perić, Jelena and Ristivojević, Bojan and Pavlović, Sonja and Zukić, Branka",
year = "2023",
abstract = "Acute lymphoblastic leukemia (ALL) is the most common childhood neoplasm. Side
effects of therapy occur in 75% of patients and 1-3% of patients have a lethal outcome due
to treatment. More efficient treatment of pediatric ALL has been developed by avoiding
drug adverse effects included in the treatment protocols. Therefore, implementation of
pharmacogenomics is paramount in pediatric ALL treatment. Next generation sequencing
(NGS) contributed to discovery of novel genetic markers, potential candidates for targeted
therapy and predictors of efficacy and toxicity of drugs.
We aimed to discover novel potential pharmacogenomic markers in pediatric ALL.
DNA samples from bone marrow of 17 pediatric ALL patients were analyzed using
the platform TruSeq Amplicon – Cancer Panel (Ilumina) for somatic mutations in 48
oncogenes. DNA samples from blood of 100 individuals, using the platform TruSightOne
(Ilumina), were analyzed for germinative mutations. An in-house virtual panel for GC
response markers was designed. Predicting the effects of novel variants was performed
using the SIFT, PolyPhen-2 and PROVEAN software tools. For protein structure stability
and modeling we used STRUM method and i-TASSER server.
In the NGS study of somatic mutations in pediatric ALL, 9 novel variants have been
identified. Bioinformatic analysis has shown that STK11 c.1023G>T and ERBB2 c.2341C>T
possess potential as pharmacogenomic markers, therefore, they are candidates for
molecular targeted therapy. In the exome sequencing study, according to the prediction
algorithms, 3 new potential markers in pharmacogenes related to GC response have been
identified, ABCB1 c.947A>G, NCOA3 rs138733364 and TBX21 rs14059812.
Using NGS analysis and prediction algorithms, we have detected 2 novel somatic mutations,
candidates for targeted molecular therapy, as well as 3 novel germinative variants,
potential pharmacogenomic markers of GC response in pediatric ALL. Pharmacogenomic
profiling of each pediatric ALL patient is indispensable for new therapy approaches and it
could lead to better outcomes.",
publisher = "Belgrade : Institute of molecular genetics and genetic engineering",
journal = "4th Belgrade Bioinformatics Conference",
title = "In Silico analysis and prediction of novel pharmacogenomic markers of pediatric ALL treatment",
pages = "95-95",
volume = "4",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2040"
}
Gašić, V., Kotur, N., Stanković, B., Pavlović, Đ., Jelovac, M., Perić, J., Ristivojević, B., Pavlović, S.,& Zukić, B.. (2023). In Silico analysis and prediction of novel pharmacogenomic markers of pediatric ALL treatment. in 4th Belgrade Bioinformatics Conference
Belgrade : Institute of molecular genetics and genetic engineering., 4, 95-95.
https://hdl.handle.net/21.15107/rcub_imagine_2040
Gašić V, Kotur N, Stanković B, Pavlović Đ, Jelovac M, Perić J, Ristivojević B, Pavlović S, Zukić B. In Silico analysis and prediction of novel pharmacogenomic markers of pediatric ALL treatment. in 4th Belgrade Bioinformatics Conference. 2023;4:95-95.
https://hdl.handle.net/21.15107/rcub_imagine_2040 .
Gašić, Vladimir, Kotur, Nikola, Stanković, Biljana, Pavlović, Đorđe, Jelovac, Marina, Perić, Jelena, Ristivojević, Bojan, Pavlović, Sonja, Zukić, Branka, "In Silico analysis and prediction of novel pharmacogenomic markers of pediatric ALL treatment" in 4th Belgrade Bioinformatics Conference, 4 (2023):95-95,
https://hdl.handle.net/21.15107/rcub_imagine_2040 .

Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis

Kostić Perić, Jelena; Ćirković, Anđa; Srzentić Dražilov, Sanja; Samardžić, Natalija; Trifunović, Vesna Skodrić; Jovanović, Dragana; Pavlović, Sonja

(2023)

TY  - JOUR
AU  - Kostić Perić, Jelena
AU  - Ćirković, Anđa
AU  - Srzentić Dražilov, Sanja
AU  - Samardžić, Natalija
AU  - Trifunović, Vesna Skodrić
AU  - Jovanović, Dragana
AU  - Pavlović, Sonja
PY  - 2023
UR  - https://sciendo.com/article/10.2478/raon-2023-0013
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1885
AB  - AbstractBackgroundThymomas belong to rare tumors giving rise to thymic epithelial tissue. There is a classification of several forms of thymoma: A, AB, B1, B2, B3, thymic carcinoma (TC) and thymic neuroendocrine thymoma. In this meta-analysis study, we have focused on thymoma using articles based on the disease’s next-generation sequencing (NGS) genomic profiling.Materials and methodsWe conducted a systematic review and meta-analysis of the prevalence of studies that discovered the genes and variants occurring in the less aggressive forms of the thymic epithelial tumors. Studies published before 12th December 2022 were identified through PubMed, Web of Science (WoS), and SCOPUS databases. Two reviewers have searched for the bases and selected the articles for the final analysis, based on well-defined exclusion and inclusion criteria.ResultsFinally, 12 publications were included in the qualitative as well as quantitative analysis. The three genes, GTF2I, TP53, and HRAS, emerged as disease-significant in the observed studies. The Odds Ratio for all three extracted genes GTF2I (OR = 1.58, CI [1.51, 1.66] p < 0.00001), TP53 (OR = 1.36, CI [1.12, 1.65], p < 0.002), and HRAS (OR = 1.02, CI [1.00, 1.04], p < 0.001).ConclusionsAccording to obtained data, we noticed that the GTF2I gene exhibits a significant prevalence in
T2  - Radiology and Oncology
T2  - Radiology and Oncology
T2  - thymoma
T2  - next-generation sequencing (NGS)
T2  - SNVs/InDels
T2  - meta-analysis
T1  - Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis
EP  - 19
IS  - 1
SP  - 12
VL  - 57
DO  - 10.2478/raon-2023-0013
ER  - 
@article{
author = "Kostić Perić, Jelena and Ćirković, Anđa and Srzentić Dražilov, Sanja and Samardžić, Natalija and Trifunović, Vesna Skodrić and Jovanović, Dragana and Pavlović, Sonja",
year = "2023",
abstract = "AbstractBackgroundThymomas belong to rare tumors giving rise to thymic epithelial tissue. There is a classification of several forms of thymoma: A, AB, B1, B2, B3, thymic carcinoma (TC) and thymic neuroendocrine thymoma. In this meta-analysis study, we have focused on thymoma using articles based on the disease’s next-generation sequencing (NGS) genomic profiling.Materials and methodsWe conducted a systematic review and meta-analysis of the prevalence of studies that discovered the genes and variants occurring in the less aggressive forms of the thymic epithelial tumors. Studies published before 12th December 2022 were identified through PubMed, Web of Science (WoS), and SCOPUS databases. Two reviewers have searched for the bases and selected the articles for the final analysis, based on well-defined exclusion and inclusion criteria.ResultsFinally, 12 publications were included in the qualitative as well as quantitative analysis. The three genes, GTF2I, TP53, and HRAS, emerged as disease-significant in the observed studies. The Odds Ratio for all three extracted genes GTF2I (OR = 1.58, CI [1.51, 1.66] p < 0.00001), TP53 (OR = 1.36, CI [1.12, 1.65], p < 0.002), and HRAS (OR = 1.02, CI [1.00, 1.04], p < 0.001).ConclusionsAccording to obtained data, we noticed that the GTF2I gene exhibits a significant prevalence in",
journal = "Radiology and Oncology, Radiology and Oncology, thymoma, next-generation sequencing (NGS), SNVs/InDels, meta-analysis",
title = "Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis",
pages = "19-12",
number = "1",
volume = "57",
doi = "10.2478/raon-2023-0013"
}
Kostić Perić, J., Ćirković, A., Srzentić Dražilov, S., Samardžić, N., Trifunović, V. S., Jovanović, D.,& Pavlović, S.. (2023). Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis. in Radiology and Oncology, 57(1), 12-19.
https://doi.org/10.2478/raon-2023-0013
Kostić Perić J, Ćirković A, Srzentić Dražilov S, Samardžić N, Trifunović VS, Jovanović D, Pavlović S. Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis. in Radiology and Oncology. 2023;57(1):12-19.
doi:10.2478/raon-2023-0013 .
Kostić Perić, Jelena, Ćirković, Anđa, Srzentić Dražilov, Sanja, Samardžić, Natalija, Trifunović, Vesna Skodrić, Jovanović, Dragana, Pavlović, Sonja, "Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis" in Radiology and Oncology, 57, no. 1 (2023):12-19,
https://doi.org/10.2478/raon-2023-0013 . .
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3
2

A Comparison of MGMT Testing by MSP and qMSP in Paired Snap-Frozen and Formalin-Fixed Paraffin-Embedded Gliomas

Lazarević, Milica; Jovanović, Nikola; Cvetković, Vladimir J.; Tošić, Svetlana; Vitorović, Jelena; Stamenković, Slaviša; Nikolov, Vesna; Vidović, Nataša; Kostić Perić, Jelena; Jovanović, Marija; Mitrović, Tatjana

(2023)

TY  - JOUR
AU  - Lazarević, Milica
AU  - Jovanović, Nikola
AU  - Cvetković, Vladimir J.
AU  - Tošić, Svetlana
AU  - Vitorović, Jelena
AU  - Stamenković, Slaviša
AU  - Nikolov, Vesna
AU  - Vidović, Nataša
AU  - Kostić Perić, Jelena
AU  - Jovanović, Marija
AU  - Mitrović, Tatjana
PY  - 2023
UR  - https://www.mdpi.com/2075-4418/13/3/360
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1777
AB  - Comparative analysis of the conventional methylation-specific PCR (MSP) vs. the quantitative MSP (qMSP) assessment of the O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation status in 34 snap-frozen (SF) glioma samples was performed. The accuracy of the semi-quantitative MSP was compared with the corresponding qMSP semi-quantitative values using two semi-quantitative cut-off values (0—unmethylated and 1—weakly methylated) to discriminate methylated from unmethylated samples. In the case of the cut-off value 0, MSP test showed 80.0% sensitivity and 78.9% specificity compared to the reference qMSP analysis. However, when using the cut-off value 1, the diagnostic accuracy of the MSP test was significantly higher (85.7% sensitivity, 85.2% specificity). Fleiss’ Kappa statistical analyses indicated moderate agreement (Fleiss’ Kappa Coefficient = 0.509; 70.59% agreement) between MSP and qMSP semi-quantitative measurements of MGMT promoter methylation in glioma patients, justifying the conventional MSP use in diagnostics and confirming its high reliability. Further, we aimed to compare the validity of SF and formalin-fixed paraffin-embedded (FFPE) glioma samples for MGMT testing. Statistical analyses indicated moderate overall agreement of FFPE glioma samples and SF MSP semi-quantitative measurements (Fleiss’ Kappa Coefficient = 0.516/0.509; 70.0% agreement) and emphasized their low reliability in the assessment of highly methylated MGMT promoter samples.
T2  - Diagnostics
T2  - Diagnostics
T1  - A Comparison of MGMT Testing by MSP and qMSP in Paired Snap-Frozen and Formalin-Fixed Paraffin-Embedded Gliomas
IS  - 3
SP  - 360
VL  - 13
DO  - 10.3390/diagnostics13030360
ER  - 
@article{
author = "Lazarević, Milica and Jovanović, Nikola and Cvetković, Vladimir J. and Tošić, Svetlana and Vitorović, Jelena and Stamenković, Slaviša and Nikolov, Vesna and Vidović, Nataša and Kostić Perić, Jelena and Jovanović, Marija and Mitrović, Tatjana",
year = "2023",
abstract = "Comparative analysis of the conventional methylation-specific PCR (MSP) vs. the quantitative MSP (qMSP) assessment of the O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation status in 34 snap-frozen (SF) glioma samples was performed. The accuracy of the semi-quantitative MSP was compared with the corresponding qMSP semi-quantitative values using two semi-quantitative cut-off values (0—unmethylated and 1—weakly methylated) to discriminate methylated from unmethylated samples. In the case of the cut-off value 0, MSP test showed 80.0% sensitivity and 78.9% specificity compared to the reference qMSP analysis. However, when using the cut-off value 1, the diagnostic accuracy of the MSP test was significantly higher (85.7% sensitivity, 85.2% specificity). Fleiss’ Kappa statistical analyses indicated moderate agreement (Fleiss’ Kappa Coefficient = 0.509; 70.59% agreement) between MSP and qMSP semi-quantitative measurements of MGMT promoter methylation in glioma patients, justifying the conventional MSP use in diagnostics and confirming its high reliability. Further, we aimed to compare the validity of SF and formalin-fixed paraffin-embedded (FFPE) glioma samples for MGMT testing. Statistical analyses indicated moderate overall agreement of FFPE glioma samples and SF MSP semi-quantitative measurements (Fleiss’ Kappa Coefficient = 0.516/0.509; 70.0% agreement) and emphasized their low reliability in the assessment of highly methylated MGMT promoter samples.",
journal = "Diagnostics, Diagnostics",
title = "A Comparison of MGMT Testing by MSP and qMSP in Paired Snap-Frozen and Formalin-Fixed Paraffin-Embedded Gliomas",
number = "3",
pages = "360",
volume = "13",
doi = "10.3390/diagnostics13030360"
}
Lazarević, M., Jovanović, N., Cvetković, V. J., Tošić, S., Vitorović, J., Stamenković, S., Nikolov, V., Vidović, N., Kostić Perić, J., Jovanović, M.,& Mitrović, T.. (2023). A Comparison of MGMT Testing by MSP and qMSP in Paired Snap-Frozen and Formalin-Fixed Paraffin-Embedded Gliomas. in Diagnostics, 13(3), 360.
https://doi.org/10.3390/diagnostics13030360
Lazarević M, Jovanović N, Cvetković VJ, Tošić S, Vitorović J, Stamenković S, Nikolov V, Vidović N, Kostić Perić J, Jovanović M, Mitrović T. A Comparison of MGMT Testing by MSP and qMSP in Paired Snap-Frozen and Formalin-Fixed Paraffin-Embedded Gliomas. in Diagnostics. 2023;13(3):360.
doi:10.3390/diagnostics13030360 .
Lazarević, Milica, Jovanović, Nikola, Cvetković, Vladimir J., Tošić, Svetlana, Vitorović, Jelena, Stamenković, Slaviša, Nikolov, Vesna, Vidović, Nataša, Kostić Perić, Jelena, Jovanović, Marija, Mitrović, Tatjana, "A Comparison of MGMT Testing by MSP and qMSP in Paired Snap-Frozen and Formalin-Fixed Paraffin-Embedded Gliomas" in Diagnostics, 13, no. 3 (2023):360,
https://doi.org/10.3390/diagnostics13030360 . .

Molekularni profil timoma

Perić, Jelena

(Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo, 2022)

TY  - CHAP
AU  - Perić, Jelena
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1818
AB  - Timomi, timusni karcinomi (TC) i timusni neuroendokrini kanceri su najčešce neoplazije lokalizovane
u timusu i pripadaju retkim formama tumora. Timomi su indolentne forme tumora, a klasifikovani su u A,
AB, B1,B2, B3 kategorije. Novije genetičke studije timoma pokazale su da je jedan od dominantnih markera
ove bolesti , gen GTF2I sa najčešćim ’drajver’ varijantama Chr7 c.1211T> A, p. Leu404His i c.1271T>A, p.
Leu424His. Pored GTF2I, u patogenezu timoma su uključeni EGFR, TP53, kao i Ras signalni putevi. Molekularna
pozadina timoma jos uvek nije dovoljno istražena, međutim sa sve većim napretkom novih tehnologija,
poput sekvenciranja nove generacije (eng. NGS) došlo se do novih informacija koje ukazuju na
uzrok, detektuju nove molekularne markere, a samim tim omogućuju uspešnije terapijske pristupe ovoj
patologiji.
AB  - Thymoma, thymic carcinoma (TC), and thymic neuroendocrine carcinoma are rare thymic epithelial
tumors (TETs) and the most frequent thymus-specific neoplasia. Thymomas are indolent or the
less aggressive forms of TETs classified into the following subgroups A, AB, B1, B2, and B3. The most
recent studies suggest thymoma specific gene GTF2I, with Chr7 c.1211T> A, p. Leu404His and
c.1271T>A, p. Leu424His, is considered driver variants for this disease. Additionally, in thymoma pathogenesis
are included EGFR, TP53 and Ras signaling pathways. The molecular background of thymoma
is still obscure, but the advance of new technologies such as next-generation sequencing (eng.
NGS) brings new information related to the molecular milieu of thymoma and other cancers. New information
help to explore the cause of the disease, detection of new molecular markers, and better
therapy approaches for thymoma.
PB  - Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo
T2  - Treći kongres biologa Srbije
T1  - Molekularni profil timoma
T1  - Molecular profile of thymoma
EP  - 153
IS  - 2
SP  - 143
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1818
ER  - 
@inbook{
author = "Perić, Jelena",
year = "2022",
abstract = "Timomi, timusni karcinomi (TC) i timusni neuroendokrini kanceri su najčešce neoplazije lokalizovane
u timusu i pripadaju retkim formama tumora. Timomi su indolentne forme tumora, a klasifikovani su u A,
AB, B1,B2, B3 kategorije. Novije genetičke studije timoma pokazale su da je jedan od dominantnih markera
ove bolesti , gen GTF2I sa najčešćim ’drajver’ varijantama Chr7 c.1211T> A, p. Leu404His i c.1271T>A, p.
Leu424His. Pored GTF2I, u patogenezu timoma su uključeni EGFR, TP53, kao i Ras signalni putevi. Molekularna
pozadina timoma jos uvek nije dovoljno istražena, međutim sa sve većim napretkom novih tehnologija,
poput sekvenciranja nove generacije (eng. NGS) došlo se do novih informacija koje ukazuju na
uzrok, detektuju nove molekularne markere, a samim tim omogućuju uspešnije terapijske pristupe ovoj
patologiji., Thymoma, thymic carcinoma (TC), and thymic neuroendocrine carcinoma are rare thymic epithelial
tumors (TETs) and the most frequent thymus-specific neoplasia. Thymomas are indolent or the
less aggressive forms of TETs classified into the following subgroups A, AB, B1, B2, and B3. The most
recent studies suggest thymoma specific gene GTF2I, with Chr7 c.1211T> A, p. Leu404His and
c.1271T>A, p. Leu424His, is considered driver variants for this disease. Additionally, in thymoma pathogenesis
are included EGFR, TP53 and Ras signaling pathways. The molecular background of thymoma
is still obscure, but the advance of new technologies such as next-generation sequencing (eng.
NGS) brings new information related to the molecular milieu of thymoma and other cancers. New information
help to explore the cause of the disease, detection of new molecular markers, and better
therapy approaches for thymoma.",
publisher = "Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo",
journal = "Treći kongres biologa Srbije",
booktitle = "Molekularni profil timoma, Molecular profile of thymoma",
pages = "153-143",
number = "2",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1818"
}
Perić, J.. (2022). Molekularni profil timoma. in Treći kongres biologa Srbije
Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo.(2), 143-153.
https://hdl.handle.net/21.15107/rcub_imagine_1818
Perić J. Molekularni profil timoma. in Treći kongres biologa Srbije. 2022;(2):143-153.
https://hdl.handle.net/21.15107/rcub_imagine_1818 .
Perić, Jelena, "Molekularni profil timoma" in Treći kongres biologa Srbije, no. 2 (2022):143-153,
https://hdl.handle.net/21.15107/rcub_imagine_1818 .

The Significance of MGMT Promoter Methylation Status in Diffuse Glioma

Jovanović, Nikola; Lazarević, Milica; Cvetković, Vladimir J.; Nikolov, Vesna; Kostić Perić, Jelena; Ugrin, Milena; Pavlović, Sonja; Mitrović, Tatjana

(2022)

TY  - JOUR
AU  - Jovanović, Nikola
AU  - Lazarević, Milica
AU  - Cvetković, Vladimir J.
AU  - Nikolov, Vesna
AU  - Kostić Perić, Jelena
AU  - Ugrin, Milena
AU  - Pavlović, Sonja
AU  - Mitrović, Tatjana
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1663
AB  - A single-institution observational study with 43 newly diagnosed diffuse gliomas defined the isocitrate dehydrogenase 1 and 2 (IDH1/2) gene mutation status and evaluated the prognostic relevance of the methylation status of the epigenetic marker O6-methylguanine-DNA methyltransferase (MGMT). Younger patients (50 years with surgical resection and IDH1/2-wildtype diffuse glioma), distinguished 10 (41.6%) methylated samples from 14 (58.4%) unmethylated samples. Finally, significant correlation between OS and methylation status was noticed (p ≈ 0.05). The OS of the hypermethylated group was 9.6 ± 1.77 months, whereas the OS of the unmethylated group was 5.43 ± 1.04 months. Our study recognized the MGMT promoter methylation status as a positive prognostic factor within the described homogenous cohort, although further verification in a larger population of diffuse gliomas is required.
T2  - International Journal of Molecular Sciences
T2  - International Journal of Molecular Sciences
T1  - The Significance of MGMT Promoter Methylation Status in Diffuse Glioma
IS  - 21
SP  - 13034
VL  - 23
DO  - 10.3390/ijms232113034
ER  - 
@article{
author = "Jovanović, Nikola and Lazarević, Milica and Cvetković, Vladimir J. and Nikolov, Vesna and Kostić Perić, Jelena and Ugrin, Milena and Pavlović, Sonja and Mitrović, Tatjana",
year = "2022",
abstract = "A single-institution observational study with 43 newly diagnosed diffuse gliomas defined the isocitrate dehydrogenase 1 and 2 (IDH1/2) gene mutation status and evaluated the prognostic relevance of the methylation status of the epigenetic marker O6-methylguanine-DNA methyltransferase (MGMT). Younger patients (50 years with surgical resection and IDH1/2-wildtype diffuse glioma), distinguished 10 (41.6%) methylated samples from 14 (58.4%) unmethylated samples. Finally, significant correlation between OS and methylation status was noticed (p ≈ 0.05). The OS of the hypermethylated group was 9.6 ± 1.77 months, whereas the OS of the unmethylated group was 5.43 ± 1.04 months. Our study recognized the MGMT promoter methylation status as a positive prognostic factor within the described homogenous cohort, although further verification in a larger population of diffuse gliomas is required.",
journal = "International Journal of Molecular Sciences, International Journal of Molecular Sciences",
title = "The Significance of MGMT Promoter Methylation Status in Diffuse Glioma",
number = "21",
pages = "13034",
volume = "23",
doi = "10.3390/ijms232113034"
}
Jovanović, N., Lazarević, M., Cvetković, V. J., Nikolov, V., Kostić Perić, J., Ugrin, M., Pavlović, S.,& Mitrović, T.. (2022). The Significance of MGMT Promoter Methylation Status in Diffuse Glioma. in International Journal of Molecular Sciences, 23(21), 13034.
https://doi.org/10.3390/ijms232113034
Jovanović N, Lazarević M, Cvetković VJ, Nikolov V, Kostić Perić J, Ugrin M, Pavlović S, Mitrović T. The Significance of MGMT Promoter Methylation Status in Diffuse Glioma. in International Journal of Molecular Sciences. 2022;23(21):13034.
doi:10.3390/ijms232113034 .
Jovanović, Nikola, Lazarević, Milica, Cvetković, Vladimir J., Nikolov, Vesna, Kostić Perić, Jelena, Ugrin, Milena, Pavlović, Sonja, Mitrović, Tatjana, "The Significance of MGMT Promoter Methylation Status in Diffuse Glioma" in International Journal of Molecular Sciences, 23, no. 21 (2022):13034,
https://doi.org/10.3390/ijms232113034 . .
1
2
2

Preeclamptic Women Have Disrupted Placental microRNA Expression at the Time of Preeclampsia Diagnosis: Meta-Analysis

Cirković, Andja; Stanisavljević, Dejana; Milin-Lazović, Jelena; Rajović, Nina; Pavlović, Vedrana; Milicević, Ognjen; Savić, Marko; Perić, Jelena; Aleksić, Nataša; Milić, Nikola; Stanisavljević, Tamara; Miković, Zeljko; Garović, Vesna; Milić, Nataša

(Frontiers Media Sa, Lausanne, 2021)

TY  - JOUR
AU  - Cirković, Andja
AU  - Stanisavljević, Dejana
AU  - Milin-Lazović, Jelena
AU  - Rajović, Nina
AU  - Pavlović, Vedrana
AU  - Milicević, Ognjen
AU  - Savić, Marko
AU  - Perić, Jelena
AU  - Aleksić, Nataša
AU  - Milić, Nikola
AU  - Stanisavljević, Tamara
AU  - Miković, Zeljko
AU  - Garović, Vesna
AU  - Milić, Nataša
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1430
AB  - Introduction: Preeclampsia (PE) is a pregnancy-associated, multi-organ, life-threatening disease that appears after the 20th week of gestation. The aim of this study was to perform a systematic review and meta-analysis to determine whether women with PE have disrupted miRNA expression compared to women who do not have PE.Methods: We conducted a systematic review and meta-analysis of studies that reported miRNAs expression levels in placenta or peripheral blood of pregnant women with vs. without PE. Studies published before October 29, 2021 were identified through PubMed, EMBASE and Web of Science. Two reviewers used predefined forms and protocols to evaluate independently the eligibility of studies based on titles and abstracts and to perform full-text screening, data abstraction and quality assessment. Standardized mean difference (SMD) was used as a measure of effect size.Results: 229 publications were included in the systematic review and 53 in the meta-analysis. The expression levels in placenta were significantly higher in women with PE compared to women without PE for miRNA-16 (SMD = 1.51,95%CI = 0.55-2.46), miRNA-20b (SMD = 0.89, 95%CI = 0.33-1.45), miRNA-23a (SMD = 2.02, 95%CI = 1.25-2.78), miRNA-29b (SMD = 1.37, 95%CI = 0.36-2.37), miRNA-155 (SMD = 2.99, 95%CI = 0.83-5.14) and miRNA-210 (SMD = 1.63, 95%CI = 0.69-2.58), and significantly lower for miRNA-376c (SMD = -4.86, 95%CI = -9.51 to -0.20). An increased level of miRNK-155 expression was found in peripheral blood of women with PE (SMD = 2.06, 95%CI = 0.35-3.76), while the expression level of miRNA-16 was significantly lower in peripheral blood of PE women (SMD = -0.47, 95%CI = -0.91 to -0.03). The functional roles of the presented miRNAs include control of trophoblast proliferation, migration, invasion, apoptosis, differentiation, cellular metabolism and angiogenesis.Conclusion: miRNAs play an important role in the pathophysiology of PE. The identification of differentially expressed miRNAs in maternal blood creates an opportunity to define an easily accessible biomarker of PE.
PB  - Frontiers Media Sa, Lausanne
T2  - Frontiers in Bioengineering and Biotechnology
T1  - Preeclamptic Women Have Disrupted Placental microRNA Expression at the Time of Preeclampsia Diagnosis: Meta-Analysis
VL  - 9
DO  - 10.3389/fbioe.2021.782845
ER  - 
@article{
author = "Cirković, Andja and Stanisavljević, Dejana and Milin-Lazović, Jelena and Rajović, Nina and Pavlović, Vedrana and Milicević, Ognjen and Savić, Marko and Perić, Jelena and Aleksić, Nataša and Milić, Nikola and Stanisavljević, Tamara and Miković, Zeljko and Garović, Vesna and Milić, Nataša",
year = "2021",
abstract = "Introduction: Preeclampsia (PE) is a pregnancy-associated, multi-organ, life-threatening disease that appears after the 20th week of gestation. The aim of this study was to perform a systematic review and meta-analysis to determine whether women with PE have disrupted miRNA expression compared to women who do not have PE.Methods: We conducted a systematic review and meta-analysis of studies that reported miRNAs expression levels in placenta or peripheral blood of pregnant women with vs. without PE. Studies published before October 29, 2021 were identified through PubMed, EMBASE and Web of Science. Two reviewers used predefined forms and protocols to evaluate independently the eligibility of studies based on titles and abstracts and to perform full-text screening, data abstraction and quality assessment. Standardized mean difference (SMD) was used as a measure of effect size.Results: 229 publications were included in the systematic review and 53 in the meta-analysis. The expression levels in placenta were significantly higher in women with PE compared to women without PE for miRNA-16 (SMD = 1.51,95%CI = 0.55-2.46), miRNA-20b (SMD = 0.89, 95%CI = 0.33-1.45), miRNA-23a (SMD = 2.02, 95%CI = 1.25-2.78), miRNA-29b (SMD = 1.37, 95%CI = 0.36-2.37), miRNA-155 (SMD = 2.99, 95%CI = 0.83-5.14) and miRNA-210 (SMD = 1.63, 95%CI = 0.69-2.58), and significantly lower for miRNA-376c (SMD = -4.86, 95%CI = -9.51 to -0.20). An increased level of miRNK-155 expression was found in peripheral blood of women with PE (SMD = 2.06, 95%CI = 0.35-3.76), while the expression level of miRNA-16 was significantly lower in peripheral blood of PE women (SMD = -0.47, 95%CI = -0.91 to -0.03). The functional roles of the presented miRNAs include control of trophoblast proliferation, migration, invasion, apoptosis, differentiation, cellular metabolism and angiogenesis.Conclusion: miRNAs play an important role in the pathophysiology of PE. The identification of differentially expressed miRNAs in maternal blood creates an opportunity to define an easily accessible biomarker of PE.",
publisher = "Frontiers Media Sa, Lausanne",
journal = "Frontiers in Bioengineering and Biotechnology",
title = "Preeclamptic Women Have Disrupted Placental microRNA Expression at the Time of Preeclampsia Diagnosis: Meta-Analysis",
volume = "9",
doi = "10.3389/fbioe.2021.782845"
}
Cirković, A., Stanisavljević, D., Milin-Lazović, J., Rajović, N., Pavlović, V., Milicević, O., Savić, M., Perić, J., Aleksić, N., Milić, N., Stanisavljević, T., Miković, Z., Garović, V.,& Milić, N.. (2021). Preeclamptic Women Have Disrupted Placental microRNA Expression at the Time of Preeclampsia Diagnosis: Meta-Analysis. in Frontiers in Bioengineering and Biotechnology
Frontiers Media Sa, Lausanne., 9.
https://doi.org/10.3389/fbioe.2021.782845
Cirković A, Stanisavljević D, Milin-Lazović J, Rajović N, Pavlović V, Milicević O, Savić M, Perić J, Aleksić N, Milić N, Stanisavljević T, Miković Z, Garović V, Milić N. Preeclamptic Women Have Disrupted Placental microRNA Expression at the Time of Preeclampsia Diagnosis: Meta-Analysis. in Frontiers in Bioengineering and Biotechnology. 2021;9.
doi:10.3389/fbioe.2021.782845 .
Cirković, Andja, Stanisavljević, Dejana, Milin-Lazović, Jelena, Rajović, Nina, Pavlović, Vedrana, Milicević, Ognjen, Savić, Marko, Perić, Jelena, Aleksić, Nataša, Milić, Nikola, Stanisavljević, Tamara, Miković, Zeljko, Garović, Vesna, Milić, Nataša, "Preeclamptic Women Have Disrupted Placental microRNA Expression at the Time of Preeclampsia Diagnosis: Meta-Analysis" in Frontiers in Bioengineering and Biotechnology, 9 (2021),
https://doi.org/10.3389/fbioe.2021.782845 . .
2
15
14

Correlation of genomic alterations and PD-L1 expression in thymoma

Jovanović, Dragana; Marković, Jelena; Ceriman, Vesna; Perić, Jelena; Pavlović, Sonja; Soldatović, Ivan

(Ame Publ Co, Shatin, 2020)

TY  - JOUR
AU  - Jovanović, Dragana
AU  - Marković, Jelena
AU  - Ceriman, Vesna
AU  - Perić, Jelena
AU  - Pavlović, Sonja
AU  - Soldatović, Ivan
PY  - 2020
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1341
AB  - Thymic epithelial tumors (TETs) include several anterior mediastinal malignant tumours: thymomas, thymic carcinomas and thymic neuroendocrine cancers. There is significant variety in the biologic features and clinical course of TETs and many attempts have been made to identify target genes for successful therapy of TETs. Next generation sequencing (NGS) represents a huge advancement in diagnostics and these new molecular technologies revealed that thymic neoplasms have the lowest tumor mutation burden among all adult malignant tumours with a different pattern of molecular aberrations in thymomas and thymic carcinomas. As for the PD-L1 expression in tumor cells in thymoma and thymic carcinoma, it varies a lot in published studies, with findings of PD-L1 expression from 23% to 92% in thymoma and 36% to 100% in thymic carcinoma. When correlated PD-L1 expression with disease stage some controversial results were obtained, with no association with tumor stage in most studies. This is, at least in part, explained by the fact that several diverse PD-L1 immunohistochemical tests were used in each trial, with four different antibodies (SP142, SP263, 22C3, and 28-8), different definition of PD-L1 positivity and cutoff values throughout the studies as well. There is a huge interest in using genomic features to produce predictive genomic-based immunotherapy biomarkers, particularly since recent data suggest that certain tumor-specific genomic alterations, either individually or in combination, appear to influence immune checkpoint activity and better responses as the outcome, so as such in some cancer types they may complement existing biomarkers to improve the selection criteria for immunotherapy.
PB  - Ame Publ Co, Shatin
T2  - Journal of Thoracic Disease
T1  - Correlation of genomic alterations and PD-L1 expression in thymoma
EP  - 7570
IS  - 12
SP  - 7561
VL  - 12
DO  - 10.21037/jtd-2019-thym-13
ER  - 
@article{
author = "Jovanović, Dragana and Marković, Jelena and Ceriman, Vesna and Perić, Jelena and Pavlović, Sonja and Soldatović, Ivan",
year = "2020",
abstract = "Thymic epithelial tumors (TETs) include several anterior mediastinal malignant tumours: thymomas, thymic carcinomas and thymic neuroendocrine cancers. There is significant variety in the biologic features and clinical course of TETs and many attempts have been made to identify target genes for successful therapy of TETs. Next generation sequencing (NGS) represents a huge advancement in diagnostics and these new molecular technologies revealed that thymic neoplasms have the lowest tumor mutation burden among all adult malignant tumours with a different pattern of molecular aberrations in thymomas and thymic carcinomas. As for the PD-L1 expression in tumor cells in thymoma and thymic carcinoma, it varies a lot in published studies, with findings of PD-L1 expression from 23% to 92% in thymoma and 36% to 100% in thymic carcinoma. When correlated PD-L1 expression with disease stage some controversial results were obtained, with no association with tumor stage in most studies. This is, at least in part, explained by the fact that several diverse PD-L1 immunohistochemical tests were used in each trial, with four different antibodies (SP142, SP263, 22C3, and 28-8), different definition of PD-L1 positivity and cutoff values throughout the studies as well. There is a huge interest in using genomic features to produce predictive genomic-based immunotherapy biomarkers, particularly since recent data suggest that certain tumor-specific genomic alterations, either individually or in combination, appear to influence immune checkpoint activity and better responses as the outcome, so as such in some cancer types they may complement existing biomarkers to improve the selection criteria for immunotherapy.",
publisher = "Ame Publ Co, Shatin",
journal = "Journal of Thoracic Disease",
title = "Correlation of genomic alterations and PD-L1 expression in thymoma",
pages = "7570-7561",
number = "12",
volume = "12",
doi = "10.21037/jtd-2019-thym-13"
}
Jovanović, D., Marković, J., Ceriman, V., Perić, J., Pavlović, S.,& Soldatović, I.. (2020). Correlation of genomic alterations and PD-L1 expression in thymoma. in Journal of Thoracic Disease
Ame Publ Co, Shatin., 12(12), 7561-7570.
https://doi.org/10.21037/jtd-2019-thym-13
Jovanović D, Marković J, Ceriman V, Perić J, Pavlović S, Soldatović I. Correlation of genomic alterations and PD-L1 expression in thymoma. in Journal of Thoracic Disease. 2020;12(12):7561-7570.
doi:10.21037/jtd-2019-thym-13 .
Jovanović, Dragana, Marković, Jelena, Ceriman, Vesna, Perić, Jelena, Pavlović, Sonja, Soldatović, Ivan, "Correlation of genomic alterations and PD-L1 expression in thymoma" in Journal of Thoracic Disease, 12, no. 12 (2020):7561-7570,
https://doi.org/10.21037/jtd-2019-thym-13 . .
5
5

Primena ciljanog sekvenciranja nove generacije u analizi mutacionog profila pacijenata sa akutnom limfoblastnom leukemijom

Janić, Dragana; Perić, Jelena; Karan-Đurašević, Teodora; Kostić, Tatjana; Marjanović, Irena; Stanić, Bojana; Pejanović, Nadja; Dokmanović, Lidija; Lazić, Jelena; Krstovski, Nada; Virijević, Marijana; Tomin, Dragica; Vidović, Ana; Suvajdžić-Vuković, Nada; Pavlović, Sonja; Tošić, Nataša

(Društvo medicinskih biohemičara Srbije, Beograd i Versita, 2020)

TY  - JOUR
AU  - Janić, Dragana
AU  - Perić, Jelena
AU  - Karan-Đurašević, Teodora
AU  - Kostić, Tatjana
AU  - Marjanović, Irena
AU  - Stanić, Bojana
AU  - Pejanović, Nadja
AU  - Dokmanović, Lidija
AU  - Lazić, Jelena
AU  - Krstovski, Nada
AU  - Virijević, Marijana
AU  - Tomin, Dragica
AU  - Vidović, Ana
AU  - Suvajdžić-Vuković, Nada
AU  - Pavlović, Sonja
AU  - Tošić, Nataša
PY  - 2020
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1303
AB  - lt b gt Uvod: lt /b gt  Akutna limfoblastna leukemija (ALL) je najčešće maligno oboljenje kod dece, dok je kod odraslih njena učestalost mnogo niža. U današnjoj kliničkoj praksi kao najvažnije metode stratifikacije pacijenata u određene grupe rizika koriste se metode identifikacije citogenetičkih aberacija i malog broja molekulanih markera. Tehnologija sekvenciranja nove generacije (SNG) obezbeđuje veliku količinu podataka koji doprinose razjašnjavanju mutacionog profila dečje (dALL) i adultne ALL (aALL).  lt b gt Metode: lt /b gt  Uzorci DNK iz 34 dALL i aALL pacijenata analizirani su primenom SNG ciljanog sekvenciranja ("TruSeq Amplicon Cancer Panel - TSACP") kojim se sekvenciraju "hotspot" mutacije u 48 gena povezanih sa kancerom.  lt b gt Rezultati: lt /b gt  Identifikovano je ukupno 330 varijanti u kodirajućim regionima, od kojih je samo 95 njih za posledicu imalo potencijalnu promenu u proteinu. Posmatrano kod pojedinačnih pacijenata, detektovane mutacije su pretežno remetile Ras/RTK signalni put (STK11, KIT, MET, NRAS, KRAS, PTEN). Pored toga, identifikovano je 5 pacijenata sa istom mutacijom u HNF1A genu, koja je uzrokovala poremećaje u Wnt i Notch signalnom putu. Kod dva pa cijenta otkrivene su varijante u NOTCH1 genu. Nije detektovano istovremeno prisustvo varijanti u HNF1A i NOTCH1 genu, dok su geni uključeni u Ras/RTK signalni put pokazali tendenciju ka akumuliranju mutacija.  lt b gt Zaključak: lt /b gt  Naši rezultati pokazuju da ALL sadrži Mali broj mutacija, bez značajnih razlika između dALL i aALL (medijana po pacijentu 2 odnosno 3). Detektovane mutacije izazivaju poremećaje u nekoliko ključnih signalnih puteva, prvenstveno Ras/RTK kaskade. Ova studija doprinosi ukupnom znanju o mutacionom profilu ALL, što vodi ka boljem razumijevanju molekularne osnove ovog oboljenja.
AB  - lt b gt Background: lt /b gt  Acute lymphoblastic leukemia (ALL) is the most common cancer in children, whereas it is less common in adults. Identification of cytogenetic aberrations and a small number of molecular abnormalities are still the most important risk and therapy stratification methods in clinical practice today. Next generation sequencing (NGS) technology provides a large amount of data contributing to elucidation of mutational landscape of childhood (cALL) and adult ALL (aALL).  lt b gt Methods: lt /b gt  We analyzed DNA samples from 34 cALL and aALL patients, using NGS targeted sequencing TruSeq Amplicon - Cancer Panel (TSACP) which targets mutational hotspots in 48 cancer related genes.  lt b gt Results: lt /b gt  We identified a total of 330 variants in the coding regions, out of which only 95 were potentially protein-changing. Observed in individual patients, detected mutations predominantly disrupted Ras/RTK pathway (STK11, KIT, MET, NRAS, KRAS, PTEN). Additionally, we identified 5 patients with the same mutation in HNF1A gene, disrupting both Wnt and Notch signaling pathway. In two patients we detected variants in NOTCH1 gene. HNF1A and NOTCH1 variants were mutually exclusive, while genes involved in Ras/RTK pathway exhibit a tendency of mutation accumulation.  lt b gt Conclusions: lt /b gt  Our results showed that ALL contains low number of mutations, without significant differences between cALL and aALL (median per patient 2 and 3, respectively). Detected mutations affect few key signaling pathways, primarily Ras/RTK cascade. This study contributes to knowledge of ALL mutational landscape, leading to better understanding of molecular basis of this disease.
PB  - Društvo medicinskih biohemičara Srbije, Beograd i Versita
T2  - Journal of Medical Biochemistry
T1  - Primena ciljanog sekvenciranja nove generacije u analizi mutacionog profila pacijenata sa akutnom limfoblastnom leukemijom
T1  - Application of targeted next generation sequencing for the mutational profiling of patients with acute lymphoblastic leukemia
EP  - 82
IS  - 1
SP  - 72
VL  - 39
DO  - 10.2478/jomb-2019-0017
ER  - 
@article{
author = "Janić, Dragana and Perić, Jelena and Karan-Đurašević, Teodora and Kostić, Tatjana and Marjanović, Irena and Stanić, Bojana and Pejanović, Nadja and Dokmanović, Lidija and Lazić, Jelena and Krstovski, Nada and Virijević, Marijana and Tomin, Dragica and Vidović, Ana and Suvajdžić-Vuković, Nada and Pavlović, Sonja and Tošić, Nataša",
year = "2020",
abstract = "lt b gt Uvod: lt /b gt  Akutna limfoblastna leukemija (ALL) je najčešće maligno oboljenje kod dece, dok je kod odraslih njena učestalost mnogo niža. U današnjoj kliničkoj praksi kao najvažnije metode stratifikacije pacijenata u određene grupe rizika koriste se metode identifikacije citogenetičkih aberacija i malog broja molekulanih markera. Tehnologija sekvenciranja nove generacije (SNG) obezbeđuje veliku količinu podataka koji doprinose razjašnjavanju mutacionog profila dečje (dALL) i adultne ALL (aALL).  lt b gt Metode: lt /b gt  Uzorci DNK iz 34 dALL i aALL pacijenata analizirani su primenom SNG ciljanog sekvenciranja ("TruSeq Amplicon Cancer Panel - TSACP") kojim se sekvenciraju "hotspot" mutacije u 48 gena povezanih sa kancerom.  lt b gt Rezultati: lt /b gt  Identifikovano je ukupno 330 varijanti u kodirajućim regionima, od kojih je samo 95 njih za posledicu imalo potencijalnu promenu u proteinu. Posmatrano kod pojedinačnih pacijenata, detektovane mutacije su pretežno remetile Ras/RTK signalni put (STK11, KIT, MET, NRAS, KRAS, PTEN). Pored toga, identifikovano je 5 pacijenata sa istom mutacijom u HNF1A genu, koja je uzrokovala poremećaje u Wnt i Notch signalnom putu. Kod dva pa cijenta otkrivene su varijante u NOTCH1 genu. Nije detektovano istovremeno prisustvo varijanti u HNF1A i NOTCH1 genu, dok su geni uključeni u Ras/RTK signalni put pokazali tendenciju ka akumuliranju mutacija.  lt b gt Zaključak: lt /b gt  Naši rezultati pokazuju da ALL sadrži Mali broj mutacija, bez značajnih razlika između dALL i aALL (medijana po pacijentu 2 odnosno 3). Detektovane mutacije izazivaju poremećaje u nekoliko ključnih signalnih puteva, prvenstveno Ras/RTK kaskade. Ova studija doprinosi ukupnom znanju o mutacionom profilu ALL, što vodi ka boljem razumijevanju molekularne osnove ovog oboljenja., lt b gt Background: lt /b gt  Acute lymphoblastic leukemia (ALL) is the most common cancer in children, whereas it is less common in adults. Identification of cytogenetic aberrations and a small number of molecular abnormalities are still the most important risk and therapy stratification methods in clinical practice today. Next generation sequencing (NGS) technology provides a large amount of data contributing to elucidation of mutational landscape of childhood (cALL) and adult ALL (aALL).  lt b gt Methods: lt /b gt  We analyzed DNA samples from 34 cALL and aALL patients, using NGS targeted sequencing TruSeq Amplicon - Cancer Panel (TSACP) which targets mutational hotspots in 48 cancer related genes.  lt b gt Results: lt /b gt  We identified a total of 330 variants in the coding regions, out of which only 95 were potentially protein-changing. Observed in individual patients, detected mutations predominantly disrupted Ras/RTK pathway (STK11, KIT, MET, NRAS, KRAS, PTEN). Additionally, we identified 5 patients with the same mutation in HNF1A gene, disrupting both Wnt and Notch signaling pathway. In two patients we detected variants in NOTCH1 gene. HNF1A and NOTCH1 variants were mutually exclusive, while genes involved in Ras/RTK pathway exhibit a tendency of mutation accumulation.  lt b gt Conclusions: lt /b gt  Our results showed that ALL contains low number of mutations, without significant differences between cALL and aALL (median per patient 2 and 3, respectively). Detected mutations affect few key signaling pathways, primarily Ras/RTK cascade. This study contributes to knowledge of ALL mutational landscape, leading to better understanding of molecular basis of this disease.",
publisher = "Društvo medicinskih biohemičara Srbije, Beograd i Versita",
journal = "Journal of Medical Biochemistry",
title = "Primena ciljanog sekvenciranja nove generacije u analizi mutacionog profila pacijenata sa akutnom limfoblastnom leukemijom, Application of targeted next generation sequencing for the mutational profiling of patients with acute lymphoblastic leukemia",
pages = "82-72",
number = "1",
volume = "39",
doi = "10.2478/jomb-2019-0017"
}
Janić, D., Perić, J., Karan-Đurašević, T., Kostić, T., Marjanović, I., Stanić, B., Pejanović, N., Dokmanović, L., Lazić, J., Krstovski, N., Virijević, M., Tomin, D., Vidović, A., Suvajdžić-Vuković, N., Pavlović, S.,& Tošić, N.. (2020). Primena ciljanog sekvenciranja nove generacije u analizi mutacionog profila pacijenata sa akutnom limfoblastnom leukemijom. in Journal of Medical Biochemistry
Društvo medicinskih biohemičara Srbije, Beograd i Versita., 39(1), 72-82.
https://doi.org/10.2478/jomb-2019-0017
Janić D, Perić J, Karan-Đurašević T, Kostić T, Marjanović I, Stanić B, Pejanović N, Dokmanović L, Lazić J, Krstovski N, Virijević M, Tomin D, Vidović A, Suvajdžić-Vuković N, Pavlović S, Tošić N. Primena ciljanog sekvenciranja nove generacije u analizi mutacionog profila pacijenata sa akutnom limfoblastnom leukemijom. in Journal of Medical Biochemistry. 2020;39(1):72-82.
doi:10.2478/jomb-2019-0017 .
Janić, Dragana, Perić, Jelena, Karan-Đurašević, Teodora, Kostić, Tatjana, Marjanović, Irena, Stanić, Bojana, Pejanović, Nadja, Dokmanović, Lidija, Lazić, Jelena, Krstovski, Nada, Virijević, Marijana, Tomin, Dragica, Vidović, Ana, Suvajdžić-Vuković, Nada, Pavlović, Sonja, Tošić, Nataša, "Primena ciljanog sekvenciranja nove generacije u analizi mutacionog profila pacijenata sa akutnom limfoblastnom leukemijom" in Journal of Medical Biochemistry, 39, no. 1 (2020):72-82,
https://doi.org/10.2478/jomb-2019-0017 . .
2
1

Genomic profiling of thymoma using a targeted high-throughput approach

Perić, Jelena; Samaradzic, Natalija; Trifunovic, Vesna Skodric; Tošić, Nataša ; Stojsic, Jelena; Pavlović, Sonja; Jovanovic, Dragana

(2020)

TY  - JOUR
AU  - Perić, Jelena
AU  - Samaradzic, Natalija
AU  - Trifunovic, Vesna Skodric
AU  - Tošić, Nataša 
AU  - Stojsic, Jelena
AU  - Pavlović, Sonja
AU  - Jovanovic, Dragana
PY  - 2020
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1643
AB  - Introduction:  Thymomas and thymic carcinoma (TC) are the most common neoplasms localised in the thymus. These diseases are poorly understood, but progress made in next-generation sequencing (NGS) technology has provided novel data on their molecular pathology.   Material and methods:  Genomic...
T2  - Archives of Medical Science
T2  - Archives of Medical ScienceArch Med Sci
T1  - Genomic profiling of thymoma using a targeted high-throughput approach
DO  - 10.5114/aoms.2020.96537
ER  - 
@article{
author = "Perić, Jelena and Samaradzic, Natalija and Trifunovic, Vesna Skodric and Tošić, Nataša  and Stojsic, Jelena and Pavlović, Sonja and Jovanovic, Dragana",
year = "2020",
abstract = "Introduction:  Thymomas and thymic carcinoma (TC) are the most common neoplasms localised in the thymus. These diseases are poorly understood, but progress made in next-generation sequencing (NGS) technology has provided novel data on their molecular pathology.   Material and methods:  Genomic...",
journal = "Archives of Medical Science, Archives of Medical ScienceArch Med Sci",
title = "Genomic profiling of thymoma using a targeted high-throughput approach",
doi = "10.5114/aoms.2020.96537"
}
Perić, J., Samaradzic, N., Trifunovic, V. S., Tošić, N., Stojsic, J., Pavlović, S.,& Jovanovic, D.. (2020). Genomic profiling of thymoma using a targeted high-throughput approach. in Archives of Medical Science.
https://doi.org/10.5114/aoms.2020.96537
Perić J, Samaradzic N, Trifunovic VS, Tošić N, Stojsic J, Pavlović S, Jovanovic D. Genomic profiling of thymoma using a targeted high-throughput approach. in Archives of Medical Science. 2020;.
doi:10.5114/aoms.2020.96537 .
Perić, Jelena, Samaradzic, Natalija, Trifunovic, Vesna Skodric, Tošić, Nataša , Stojsic, Jelena, Pavlović, Sonja, Jovanovic, Dragana, "Genomic profiling of thymoma using a targeted high-throughput approach" in Archives of Medical Science (2020),
https://doi.org/10.5114/aoms.2020.96537 . .
4

Sekvenciranje nove generacije kao metoda za farmakogenomsko profilisanje - devet novih potencijalnih genetičkih markera za ciljanu terapiju akutne limfoblastne leukemije kod dece

Dokmanović, Lidija; Milošević, Goran; Perić, Jelena; Tošić, Nataša; Krstovski, Nada; Janić, Dragana; Pavlović, Sonja

(Srpsko lekarsko društvo, Beograd, 2018)

TY  - JOUR
AU  - Dokmanović, Lidija
AU  - Milošević, Goran
AU  - Perić, Jelena
AU  - Tošić, Nataša
AU  - Krstovski, Nada
AU  - Janić, Dragana
AU  - Pavlović, Sonja
PY  - 2018
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1131
AB  - Uvod/Cilj Sekvenciranje nove generacije (SNG) omogućilo je genomsko profilisanje svakog bolesnika. Nova saznanja u oblasti farmakogenomike omogućavaju primenu podataka dobijenih ovom metodom u cilju otkrivanja novih mogućih genetičkih markera za ciljanu terapiju mnogih, posebno malignih bolesti. Cilj ovog istraživanja je bio da se primenom SNG odre- di genetski profil akutne limfoblastne leukemije (ALL) kod dece u cilju procene mogućih molekularnih meta za ciljanu terapiju. Metode Analizirali smo DNK uzorke 17 bolesnika obolelih od ALL dečjeg doba koristeći ciljano SNG. Napredne bioinformatičke metode su korišćene da identifikuju nove mutacije u analiziranim genima i da predvide njihov uticaj i farmakogenomski potencijal. Rezultati Identifikovali smo devet genskih varijanti koje do sada nisu opisane u relevantnim bazama podataka. U navedenim varijantama identifikovane su dve 'besmislene' varijante, ABL1 p.Q252* i AKT1 p.W22*, jedna varijanta koja pomera okvir čitanja, STK11 p.G257fs*28, i šest nesinonimnih varijanti. Kreirali smo trodimenzionalni model za četiri proteina koji bi bili produkt novih nesinonimnih varijanti. Analizirali smo farmakogenomski potencijal svake varijante i otkrili da su dve, STK11 c.1023G gt T/ p.L341F i ERBB2 c.2341C gt T/ p.R781W, mogući kandidati za ciljanu terapiju. Zaključak Nove varijante otkrivene u ovoj studiji pripa- daju uglavnom genima povezanim sa Ras signalnim putem, koji je često zahvaćen mutacijama u ALL kod dece. Farmakogenomsko profilisanje svake dečje ALL biće nezamenljivo za nove terapijske pristupe. Detekcija i inicijalna analiza novih genskih varijanti, koja je predstavljena u ovoj studiji, postaće standardna procedura za dizajniranje i razvoj individualizovane terapije za decu obolelu od ALL.
AB  - Introduction/Objective Next generation sequencing (NGS) technology has enabled genomic profiling of each patient. Growing knowledge in pharmacogenomics makes it possible to use NGS data for discovery of novel potential genetic markers for targeted therapy of many diseases, especially cancers. The aim of this study was to use targeted NGS to make a genetic profile of childhood acute lymphoblastic leukemia (cALL) in order to evaluate potential molecular targets for targeted therapy. Methods We analyzed DNA samples from 17 cALL patients using NGS targeted sequencing. Advanced bioinformatic analysis was used to identify novel mutations in analyzed genes and to predict their effect and pharmacogenomic potential. Results We identified nine variants that have not been previously reported in relevant databases, including two stop-gain variants, ABL1 p.Q252* and AKT1 p.W22*, one frameshift, STK11 p.G257fs*28, and six missense variants. We created three-dimensional models of four proteins harboring novel missense variants. We analyzed pharmacogenomic potential of each variant and found that two of them, STK11 c.1023G gt T/ p.L341F and ERBB2 c.2341C gt T/ p.R781W, are suitable candidates for targeted therapy. Conclusion Most new variants detected in this study were found in the genes associated with Ras signaling pathway, which is frequently mutated in cALL patients. Pharmacogenomic profiling of each cALL will be indispensable for novel therapy approaches. Detection and initial analysis of novel variants, presented in this study, will become a standard procedure for the design and development of individualized therapies for children with ALL, leading to improved patient outcomes.
PB  - Srpsko lekarsko društvo, Beograd
T2  - Srpski arhiv za celokupno lekarstvo
T1  - Sekvenciranje nove generacije kao metoda za farmakogenomsko profilisanje - devet novih potencijalnih genetičkih markera za ciljanu terapiju akutne limfoblastne leukemije kod dece
T1  - Next generation sequencing as a tool for pharmacogenomic profiling: Nine novel potential genetic markers for targeted therapy in childhood acute lymphoblastic leukemia
EP  - 411
IS  - 7-8
SP  - 407
VL  - 146
DO  - 10.2298/SARH171003194D
ER  - 
@article{
author = "Dokmanović, Lidija and Milošević, Goran and Perić, Jelena and Tošić, Nataša and Krstovski, Nada and Janić, Dragana and Pavlović, Sonja",
year = "2018",
abstract = "Uvod/Cilj Sekvenciranje nove generacije (SNG) omogućilo je genomsko profilisanje svakog bolesnika. Nova saznanja u oblasti farmakogenomike omogućavaju primenu podataka dobijenih ovom metodom u cilju otkrivanja novih mogućih genetičkih markera za ciljanu terapiju mnogih, posebno malignih bolesti. Cilj ovog istraživanja je bio da se primenom SNG odre- di genetski profil akutne limfoblastne leukemije (ALL) kod dece u cilju procene mogućih molekularnih meta za ciljanu terapiju. Metode Analizirali smo DNK uzorke 17 bolesnika obolelih od ALL dečjeg doba koristeći ciljano SNG. Napredne bioinformatičke metode su korišćene da identifikuju nove mutacije u analiziranim genima i da predvide njihov uticaj i farmakogenomski potencijal. Rezultati Identifikovali smo devet genskih varijanti koje do sada nisu opisane u relevantnim bazama podataka. U navedenim varijantama identifikovane su dve 'besmislene' varijante, ABL1 p.Q252* i AKT1 p.W22*, jedna varijanta koja pomera okvir čitanja, STK11 p.G257fs*28, i šest nesinonimnih varijanti. Kreirali smo trodimenzionalni model za četiri proteina koji bi bili produkt novih nesinonimnih varijanti. Analizirali smo farmakogenomski potencijal svake varijante i otkrili da su dve, STK11 c.1023G gt T/ p.L341F i ERBB2 c.2341C gt T/ p.R781W, mogući kandidati za ciljanu terapiju. Zaključak Nove varijante otkrivene u ovoj studiji pripa- daju uglavnom genima povezanim sa Ras signalnim putem, koji je često zahvaćen mutacijama u ALL kod dece. Farmakogenomsko profilisanje svake dečje ALL biće nezamenljivo za nove terapijske pristupe. Detekcija i inicijalna analiza novih genskih varijanti, koja je predstavljena u ovoj studiji, postaće standardna procedura za dizajniranje i razvoj individualizovane terapije za decu obolelu od ALL., Introduction/Objective Next generation sequencing (NGS) technology has enabled genomic profiling of each patient. Growing knowledge in pharmacogenomics makes it possible to use NGS data for discovery of novel potential genetic markers for targeted therapy of many diseases, especially cancers. The aim of this study was to use targeted NGS to make a genetic profile of childhood acute lymphoblastic leukemia (cALL) in order to evaluate potential molecular targets for targeted therapy. Methods We analyzed DNA samples from 17 cALL patients using NGS targeted sequencing. Advanced bioinformatic analysis was used to identify novel mutations in analyzed genes and to predict their effect and pharmacogenomic potential. Results We identified nine variants that have not been previously reported in relevant databases, including two stop-gain variants, ABL1 p.Q252* and AKT1 p.W22*, one frameshift, STK11 p.G257fs*28, and six missense variants. We created three-dimensional models of four proteins harboring novel missense variants. We analyzed pharmacogenomic potential of each variant and found that two of them, STK11 c.1023G gt T/ p.L341F and ERBB2 c.2341C gt T/ p.R781W, are suitable candidates for targeted therapy. Conclusion Most new variants detected in this study were found in the genes associated with Ras signaling pathway, which is frequently mutated in cALL patients. Pharmacogenomic profiling of each cALL will be indispensable for novel therapy approaches. Detection and initial analysis of novel variants, presented in this study, will become a standard procedure for the design and development of individualized therapies for children with ALL, leading to improved patient outcomes.",
publisher = "Srpsko lekarsko društvo, Beograd",
journal = "Srpski arhiv za celokupno lekarstvo",
title = "Sekvenciranje nove generacije kao metoda za farmakogenomsko profilisanje - devet novih potencijalnih genetičkih markera za ciljanu terapiju akutne limfoblastne leukemije kod dece, Next generation sequencing as a tool for pharmacogenomic profiling: Nine novel potential genetic markers for targeted therapy in childhood acute lymphoblastic leukemia",
pages = "411-407",
number = "7-8",
volume = "146",
doi = "10.2298/SARH171003194D"
}
Dokmanović, L., Milošević, G., Perić, J., Tošić, N., Krstovski, N., Janić, D.,& Pavlović, S.. (2018). Sekvenciranje nove generacije kao metoda za farmakogenomsko profilisanje - devet novih potencijalnih genetičkih markera za ciljanu terapiju akutne limfoblastne leukemije kod dece. in Srpski arhiv za celokupno lekarstvo
Srpsko lekarsko društvo, Beograd., 146(7-8), 407-411.
https://doi.org/10.2298/SARH171003194D
Dokmanović L, Milošević G, Perić J, Tošić N, Krstovski N, Janić D, Pavlović S. Sekvenciranje nove generacije kao metoda za farmakogenomsko profilisanje - devet novih potencijalnih genetičkih markera za ciljanu terapiju akutne limfoblastne leukemije kod dece. in Srpski arhiv za celokupno lekarstvo. 2018;146(7-8):407-411.
doi:10.2298/SARH171003194D .
Dokmanović, Lidija, Milošević, Goran, Perić, Jelena, Tošić, Nataša, Krstovski, Nada, Janić, Dragana, Pavlović, Sonja, "Sekvenciranje nove generacije kao metoda za farmakogenomsko profilisanje - devet novih potencijalnih genetičkih markera za ciljanu terapiju akutne limfoblastne leukemije kod dece" in Srpski arhiv za celokupno lekarstvo, 146, no. 7-8 (2018):407-411,
https://doi.org/10.2298/SARH171003194D . .
3
1
3

Targeted mutational profiling of childhood and adult acute lymphoblastic leukemia patients

Perić, Jelena; Karan-Đurašević, Teodora; Kostić, Tatjana ; Marjanović, Irena; Lazić, J.; Virijević, M.; Krstovski, N.; Dokmanović, Lidija; Tomin, D.; Vidović, A.; Suvajdžić-Vuković, Nada; Janić, D.; Pavlović, Sonja; Tošić, Nataša

(Ferrata Storti Foundation, Pavia, 2017)

TY  - CONF
AU  - Perić, Jelena
AU  - Karan-Đurašević, Teodora
AU  - Kostić, Tatjana 
AU  - Marjanović, Irena
AU  - Lazić, J.
AU  - Virijević, M.
AU  - Krstovski, N.
AU  - Dokmanović, Lidija
AU  - Tomin, D.
AU  - Vidović, A.
AU  - Suvajdžić-Vuković, Nada
AU  - Janić, D.
AU  - Pavlović, Sonja
AU  - Tošić, Nataša
PY  - 2017
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1071
PB  - Ferrata Storti Foundation, Pavia
C3  - Haematologica-The Hematology Journal
T1  - Targeted mutational profiling of childhood and adult acute lymphoblastic leukemia patients
EP  - 653
SP  - 653
VL  - 102
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1071
ER  - 
@conference{
author = "Perić, Jelena and Karan-Đurašević, Teodora and Kostić, Tatjana  and Marjanović, Irena and Lazić, J. and Virijević, M. and Krstovski, N. and Dokmanović, Lidija and Tomin, D. and Vidović, A. and Suvajdžić-Vuković, Nada and Janić, D. and Pavlović, Sonja and Tošić, Nataša",
year = "2017",
publisher = "Ferrata Storti Foundation, Pavia",
journal = "Haematologica-The Hematology Journal",
title = "Targeted mutational profiling of childhood and adult acute lymphoblastic leukemia patients",
pages = "653-653",
volume = "102",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1071"
}
Perić, J., Karan-Đurašević, T., Kostić, T., Marjanović, I., Lazić, J., Virijević, M., Krstovski, N., Dokmanović, L., Tomin, D., Vidović, A., Suvajdžić-Vuković, N., Janić, D., Pavlović, S.,& Tošić, N.. (2017). Targeted mutational profiling of childhood and adult acute lymphoblastic leukemia patients. in Haematologica-The Hematology Journal
Ferrata Storti Foundation, Pavia., 102, 653-653.
https://hdl.handle.net/21.15107/rcub_imagine_1071
Perić J, Karan-Đurašević T, Kostić T, Marjanović I, Lazić J, Virijević M, Krstovski N, Dokmanović L, Tomin D, Vidović A, Suvajdžić-Vuković N, Janić D, Pavlović S, Tošić N. Targeted mutational profiling of childhood and adult acute lymphoblastic leukemia patients. in Haematologica-The Hematology Journal. 2017;102:653-653.
https://hdl.handle.net/21.15107/rcub_imagine_1071 .
Perić, Jelena, Karan-Đurašević, Teodora, Kostić, Tatjana , Marjanović, Irena, Lazić, J., Virijević, M., Krstovski, N., Dokmanović, Lidija, Tomin, D., Vidović, A., Suvajdžić-Vuković, Nada, Janić, D., Pavlović, Sonja, Tošić, Nataša, "Targeted mutational profiling of childhood and adult acute lymphoblastic leukemia patients" in Haematologica-The Hematology Journal, 102 (2017):653-653,
https://hdl.handle.net/21.15107/rcub_imagine_1071 .

Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease

Marjanović, Irena; Perić, Jelena; Stanić, Bojana; Pejanović, Nadja; Lucić, Bojana; Karan-Đurašević, Teodora; Janić, Dragana; Dokmanović, Lidija; Janković, Srdja; Suvajdžić-Vuković, Nada; Tomin, Dragica; Perisić, Ognjen; Rakocević, Goran; Popović, Milos; Pavlović, Sonja; Tošić, Nataša

(Sage Publications Ltd, London, 2016)

TY  - JOUR
AU  - Marjanović, Irena
AU  - Perić, Jelena
AU  - Stanić, Bojana
AU  - Pejanović, Nadja
AU  - Lucić, Bojana
AU  - Karan-Đurašević, Teodora
AU  - Janić, Dragana
AU  - Dokmanović, Lidija
AU  - Janković, Srdja
AU  - Suvajdžić-Vuković, Nada
AU  - Tomin, Dragica
AU  - Perisić, Ognjen
AU  - Rakocević, Goran
AU  - Popović, Milos
AU  - Pavlović, Sonja
AU  - Tošić, Nataša
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/932
AB  - The age-specific differences in the genetic mechanisms of myeloid leukemogenesis have been observed and studied previously. However, NGS technology has provided a possibility to obtain a large amount of mutation data. We analyzed DNA samples from 20 childhood (cAML) and 20 adult AML (aAML) patients, using NGS targeted sequencing. The average coverage of high-quality sequences was 2981 x per amplicon. A total of 412 (207 cAML, 205 aAML) variants in the coding regions were detected; out of which, only 122 (62 cAML and 60 aAML) were potentially protein-changing. Our results confirmed that AML contains small number of genetic alterations (median 3 mutations/patient in both groups). The prevalence of the most frequent single gene AML associated mutations differed in cAML and aAML patient cohorts: IDH1 (0 % cAML, 5 % aAML), IDH2 (0 % cAML, 10 % aAML), NPM1 (10 % cAML, 35 % aAML). Additionally, potentially protein-changing variants were found in tyrosine kinase genes or genes encoding tyrosine kinase associated proteins (JAK3, ABL1, GNAQ, and EGFR) in cAML, while among aAML, the prevalence is directed towards variants in the methylation and histone modifying genes (IDH1, IDH2, and SMARCB1). Besides uniform genomic profile of AML, specific genetic characteristic was exclusively detected in cAML and aAML.
PB  - Sage Publications Ltd, London
T2  - Tumor Biology
T1  - Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease
EP  - 13401
IS  - 10
SP  - 13391
VL  - 37
DO  - 10.1007/s13277-016-5142-7
ER  - 
@article{
author = "Marjanović, Irena and Perić, Jelena and Stanić, Bojana and Pejanović, Nadja and Lucić, Bojana and Karan-Đurašević, Teodora and Janić, Dragana and Dokmanović, Lidija and Janković, Srdja and Suvajdžić-Vuković, Nada and Tomin, Dragica and Perisić, Ognjen and Rakocević, Goran and Popović, Milos and Pavlović, Sonja and Tošić, Nataša",
year = "2016",
abstract = "The age-specific differences in the genetic mechanisms of myeloid leukemogenesis have been observed and studied previously. However, NGS technology has provided a possibility to obtain a large amount of mutation data. We analyzed DNA samples from 20 childhood (cAML) and 20 adult AML (aAML) patients, using NGS targeted sequencing. The average coverage of high-quality sequences was 2981 x per amplicon. A total of 412 (207 cAML, 205 aAML) variants in the coding regions were detected; out of which, only 122 (62 cAML and 60 aAML) were potentially protein-changing. Our results confirmed that AML contains small number of genetic alterations (median 3 mutations/patient in both groups). The prevalence of the most frequent single gene AML associated mutations differed in cAML and aAML patient cohorts: IDH1 (0 % cAML, 5 % aAML), IDH2 (0 % cAML, 10 % aAML), NPM1 (10 % cAML, 35 % aAML). Additionally, potentially protein-changing variants were found in tyrosine kinase genes or genes encoding tyrosine kinase associated proteins (JAK3, ABL1, GNAQ, and EGFR) in cAML, while among aAML, the prevalence is directed towards variants in the methylation and histone modifying genes (IDH1, IDH2, and SMARCB1). Besides uniform genomic profile of AML, specific genetic characteristic was exclusively detected in cAML and aAML.",
publisher = "Sage Publications Ltd, London",
journal = "Tumor Biology",
title = "Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease",
pages = "13401-13391",
number = "10",
volume = "37",
doi = "10.1007/s13277-016-5142-7"
}
Marjanović, I., Perić, J., Stanić, B., Pejanović, N., Lucić, B., Karan-Đurašević, T., Janić, D., Dokmanović, L., Janković, S., Suvajdžić-Vuković, N., Tomin, D., Perisić, O., Rakocević, G., Popović, M., Pavlović, S.,& Tošić, N.. (2016). Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease. in Tumor Biology
Sage Publications Ltd, London., 37(10), 13391-13401.
https://doi.org/10.1007/s13277-016-5142-7
Marjanović I, Perić J, Stanić B, Pejanović N, Lucić B, Karan-Đurašević T, Janić D, Dokmanović L, Janković S, Suvajdžić-Vuković N, Tomin D, Perisić O, Rakocević G, Popović M, Pavlović S, Tošić N. Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease. in Tumor Biology. 2016;37(10):13391-13401.
doi:10.1007/s13277-016-5142-7 .
Marjanović, Irena, Perić, Jelena, Stanić, Bojana, Pejanović, Nadja, Lucić, Bojana, Karan-Đurašević, Teodora, Janić, Dragana, Dokmanović, Lidija, Janković, Srdja, Suvajdžić-Vuković, Nada, Tomin, Dragica, Perisić, Ognjen, Rakocević, Goran, Popović, Milos, Pavlović, Sonja, Tošić, Nataša, "Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease" in Tumor Biology, 37, no. 10 (2016):13391-13401,
https://doi.org/10.1007/s13277-016-5142-7 . .
16
4
13

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias

Stojiljković, Maja; Karan-Đurašević, Teodora; Đorđević, M.; Sarajlija, A.; Brasil, S.; Kecman, B.; Grković, S.; Kostić, Jelena; Rodriguez-Pombo, P.; Desviat, L. R.; Pavlović, Sonja; Perez, B.

(Wiley, Hoboken, 2016)

TY  - JOUR
AU  - Stojiljković, Maja
AU  - Karan-Đurašević, Teodora
AU  - Đorđević, M.
AU  - Sarajlija, A.
AU  - Brasil, S.
AU  - Kecman, B.
AU  - Grković, S.
AU  - Kostić, Jelena
AU  - Rodriguez-Pombo, P.
AU  - Desviat, L. R.
AU  - Pavlović, Sonja
AU  - Perez, B.
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/907
AB  - Specific mitochondrial enzymatic deficiencies in the catabolism of branched-chain amino acids cause methylmalonic aciduria (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD). Disease-causing mutations were identified in nine unrelated branched-chain organic acidurias (BCOA) patients. We detected eight previously described mutations: p.Asn219Tyr, p.Arg369His p.Val553Glyfs*17 in MUT, p.Thr198Serfs*6 in MMAA, p.Ile144_Leu181del in PCCB, p.Gly288Valfs*11, p.Tyr438Asn in BCKDHA and p.Ala137Val in BCKDHB gene. Interestingly, we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants. Aberrant enzymes p.Leu549Pro MUT, p.Leu641Pro MUT and p.Tyr206Cys PCCB did not show residual activity in activity assays. In addition, activity of MUT enzymes was not rescued in the presence of vitamin B12 precursor in vitro which was in accordance with non-responsiveness or partial responsiveness of patients to vitamin B12 therapy. Our study brings the first molecular genetic data and detailed phenotypic characteristics for MMA, PA and MSUD patients for Serbia and the whole South-Eastern European region. Therefore, our study contributes to the better understanding of molecular landscape of BCOA in Europe and to general knowledge on genotype-phenotype correlation for these rare diseases.
PB  - Wiley, Hoboken
T2  - Clinical Genetics
T1  - Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias
EP  - 257
IS  - 3
SP  - 252
VL  - 90
DO  - 10.1111/cge.12751
ER  - 
@article{
author = "Stojiljković, Maja and Karan-Đurašević, Teodora and Đorđević, M. and Sarajlija, A. and Brasil, S. and Kecman, B. and Grković, S. and Kostić, Jelena and Rodriguez-Pombo, P. and Desviat, L. R. and Pavlović, Sonja and Perez, B.",
year = "2016",
abstract = "Specific mitochondrial enzymatic deficiencies in the catabolism of branched-chain amino acids cause methylmalonic aciduria (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD). Disease-causing mutations were identified in nine unrelated branched-chain organic acidurias (BCOA) patients. We detected eight previously described mutations: p.Asn219Tyr, p.Arg369His p.Val553Glyfs*17 in MUT, p.Thr198Serfs*6 in MMAA, p.Ile144_Leu181del in PCCB, p.Gly288Valfs*11, p.Tyr438Asn in BCKDHA and p.Ala137Val in BCKDHB gene. Interestingly, we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants. Aberrant enzymes p.Leu549Pro MUT, p.Leu641Pro MUT and p.Tyr206Cys PCCB did not show residual activity in activity assays. In addition, activity of MUT enzymes was not rescued in the presence of vitamin B12 precursor in vitro which was in accordance with non-responsiveness or partial responsiveness of patients to vitamin B12 therapy. Our study brings the first molecular genetic data and detailed phenotypic characteristics for MMA, PA and MSUD patients for Serbia and the whole South-Eastern European region. Therefore, our study contributes to the better understanding of molecular landscape of BCOA in Europe and to general knowledge on genotype-phenotype correlation for these rare diseases.",
publisher = "Wiley, Hoboken",
journal = "Clinical Genetics",
title = "Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias",
pages = "257-252",
number = "3",
volume = "90",
doi = "10.1111/cge.12751"
}
Stojiljković, M., Karan-Đurašević, T., Đorđević, M., Sarajlija, A., Brasil, S., Kecman, B., Grković, S., Kostić, J., Rodriguez-Pombo, P., Desviat, L. R., Pavlović, S.,& Perez, B.. (2016). Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. in Clinical Genetics
Wiley, Hoboken., 90(3), 252-257.
https://doi.org/10.1111/cge.12751
Stojiljković M, Karan-Đurašević T, Đorđević M, Sarajlija A, Brasil S, Kecman B, Grković S, Kostić J, Rodriguez-Pombo P, Desviat LR, Pavlović S, Perez B. Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. in Clinical Genetics. 2016;90(3):252-257.
doi:10.1111/cge.12751 .
Stojiljković, Maja, Karan-Đurašević, Teodora, Đorđević, M., Sarajlija, A., Brasil, S., Kecman, B., Grković, S., Kostić, Jelena, Rodriguez-Pombo, P., Desviat, L. R., Pavlović, Sonja, Perez, B., "Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias" in Clinical Genetics, 90, no. 3 (2016):252-257,
https://doi.org/10.1111/cge.12751 . .
12
2
9

Gene Mutation Profiles in Primary Diffuse Large B Cell Lymphoma of Central Nervous System: Next Generation Sequencing Analyses

Todorovic-Balint, Milena; Jelicić, Jelena; Mihaljević, Biljana; Kostić, Jelena; Stanić, Bojana; Balint, Bela; Pejanović, Nadja; Lucić, Bojana; Tošić, Nataša; Marjanović, Irena; Stojiljković, Maja; Karan-Đurašević, Teodora; Perisić, Ognjen; Rakocević, Goran; Popović, Milos; Raicević, Sava; Bila, Jelena; Antić, Darko; Anđelić, Boško; Pavlović, Sonja

(MDPI, Basel, 2016)

TY  - JOUR
AU  - Todorovic-Balint, Milena
AU  - Jelicić, Jelena
AU  - Mihaljević, Biljana
AU  - Kostić, Jelena
AU  - Stanić, Bojana
AU  - Balint, Bela
AU  - Pejanović, Nadja
AU  - Lucić, Bojana
AU  - Tošić, Nataša
AU  - Marjanović, Irena
AU  - Stojiljković, Maja
AU  - Karan-Đurašević, Teodora
AU  - Perisić, Ognjen
AU  - Rakocević, Goran
AU  - Popović, Milos
AU  - Raicević, Sava
AU  - Bila, Jelena
AU  - Antić, Darko
AU  - Anđelić, Boško
AU  - Pavlović, Sonja
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/936
AB  - The existence of a potential primary central nervous system lymphoma-specific genomic signature that differs from the systemic form of diffuse large B cell lymphoma (DLBCL) has been suggested, but is still controversial. We investigated 19 patients with primary DLBCL of central nervous system (DLBCL CNS) using the TruSeq Amplicon Cancer Panel (TSACP) for 48 cancer-related genes. Next generation sequencing (NGS) analyses have revealed that over 80% of potentially protein-changing mutations were located in eight genes (CTNNB1, PIK3CA, PTEN, ATM, KRAS, PTPN11, TP53 and JAK3), pointing to the potential role of these genes in lymphomagenesis. TP53 was the only gene harboring mutations in all 19 patients. In addition, the presence of mutated TP53 and ATM genes correlated with a higher total number of mutations in other analyzed genes. Furthermore, the presence of mutated ATM correlated with poorer event-free survival (EFS) (p = 0.036). The presence of the mutated SMO gene correlated with earlier disease relapse (p = 0.023), inferior event-free survival (p = 0.011) and overall survival (OS) (p = 0.017), while mutations in the PTEN gene were associated with inferior OS (p = 0.048). Our findings suggest that the TP53 and ATM genes could be involved in the molecular pathophysiology of primary DLBCL CNS, whereas mutations in the PTEN and SMO genes could affect survival regardless of the initial treatment approach.
PB  - MDPI, Basel
T2  - International Journal of Molecular Sciences
T1  - Gene Mutation Profiles in Primary Diffuse Large B Cell Lymphoma of Central Nervous System: Next Generation Sequencing Analyses
IS  - 5
VL  - 17
DO  - 10.3390/ijms17050683
ER  - 
@article{
author = "Todorovic-Balint, Milena and Jelicić, Jelena and Mihaljević, Biljana and Kostić, Jelena and Stanić, Bojana and Balint, Bela and Pejanović, Nadja and Lucić, Bojana and Tošić, Nataša and Marjanović, Irena and Stojiljković, Maja and Karan-Đurašević, Teodora and Perisić, Ognjen and Rakocević, Goran and Popović, Milos and Raicević, Sava and Bila, Jelena and Antić, Darko and Anđelić, Boško and Pavlović, Sonja",
year = "2016",
abstract = "The existence of a potential primary central nervous system lymphoma-specific genomic signature that differs from the systemic form of diffuse large B cell lymphoma (DLBCL) has been suggested, but is still controversial. We investigated 19 patients with primary DLBCL of central nervous system (DLBCL CNS) using the TruSeq Amplicon Cancer Panel (TSACP) for 48 cancer-related genes. Next generation sequencing (NGS) analyses have revealed that over 80% of potentially protein-changing mutations were located in eight genes (CTNNB1, PIK3CA, PTEN, ATM, KRAS, PTPN11, TP53 and JAK3), pointing to the potential role of these genes in lymphomagenesis. TP53 was the only gene harboring mutations in all 19 patients. In addition, the presence of mutated TP53 and ATM genes correlated with a higher total number of mutations in other analyzed genes. Furthermore, the presence of mutated ATM correlated with poorer event-free survival (EFS) (p = 0.036). The presence of the mutated SMO gene correlated with earlier disease relapse (p = 0.023), inferior event-free survival (p = 0.011) and overall survival (OS) (p = 0.017), while mutations in the PTEN gene were associated with inferior OS (p = 0.048). Our findings suggest that the TP53 and ATM genes could be involved in the molecular pathophysiology of primary DLBCL CNS, whereas mutations in the PTEN and SMO genes could affect survival regardless of the initial treatment approach.",
publisher = "MDPI, Basel",
journal = "International Journal of Molecular Sciences",
title = "Gene Mutation Profiles in Primary Diffuse Large B Cell Lymphoma of Central Nervous System: Next Generation Sequencing Analyses",
number = "5",
volume = "17",
doi = "10.3390/ijms17050683"
}
Todorovic-Balint, M., Jelicić, J., Mihaljević, B., Kostić, J., Stanić, B., Balint, B., Pejanović, N., Lucić, B., Tošić, N., Marjanović, I., Stojiljković, M., Karan-Đurašević, T., Perisić, O., Rakocević, G., Popović, M., Raicević, S., Bila, J., Antić, D., Anđelić, B.,& Pavlović, S.. (2016). Gene Mutation Profiles in Primary Diffuse Large B Cell Lymphoma of Central Nervous System: Next Generation Sequencing Analyses. in International Journal of Molecular Sciences
MDPI, Basel., 17(5).
https://doi.org/10.3390/ijms17050683
Todorovic-Balint M, Jelicić J, Mihaljević B, Kostić J, Stanić B, Balint B, Pejanović N, Lucić B, Tošić N, Marjanović I, Stojiljković M, Karan-Đurašević T, Perisić O, Rakocević G, Popović M, Raicević S, Bila J, Antić D, Anđelić B, Pavlović S. Gene Mutation Profiles in Primary Diffuse Large B Cell Lymphoma of Central Nervous System: Next Generation Sequencing Analyses. in International Journal of Molecular Sciences. 2016;17(5).
doi:10.3390/ijms17050683 .
Todorovic-Balint, Milena, Jelicić, Jelena, Mihaljević, Biljana, Kostić, Jelena, Stanić, Bojana, Balint, Bela, Pejanović, Nadja, Lucić, Bojana, Tošić, Nataša, Marjanović, Irena, Stojiljković, Maja, Karan-Đurašević, Teodora, Perisić, Ognjen, Rakocević, Goran, Popović, Milos, Raicević, Sava, Bila, Jelena, Antić, Darko, Anđelić, Boško, Pavlović, Sonja, "Gene Mutation Profiles in Primary Diffuse Large B Cell Lymphoma of Central Nervous System: Next Generation Sequencing Analyses" in International Journal of Molecular Sciences, 17, no. 5 (2016),
https://doi.org/10.3390/ijms17050683 . .
1
32
9
30

Assessment of BAALC and MN1 gene expression level could contribute to improved prognostic stratification of the aml-nk patients

Marjanović, Irena; Karan-Đurašević, Teodora; Kostić, Jelena; Kostić, Tatjana ; Virijević, M.; Djunić, I.; Suvajdžić-Vuković, Nada; Tomin, D.; Pavlović, Sonja; Tošić, Nataša

(Ferrata Storti Foundation, Pavia, 2016)

TY  - CONF
AU  - Marjanović, Irena
AU  - Karan-Đurašević, Teodora
AU  - Kostić, Jelena
AU  - Kostić, Tatjana 
AU  - Virijević, M.
AU  - Djunić, I.
AU  - Suvajdžić-Vuković, Nada
AU  - Tomin, D.
AU  - Pavlović, Sonja
AU  - Tošić, Nataša
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/911
PB  - Ferrata Storti Foundation, Pavia
C3  - Haematologica-The Hematology Journal
T1  - Assessment of BAALC and MN1 gene expression level could contribute to improved prognostic stratification of the aml-nk patients
EP  - 382
SP  - 382
VL  - 101
UR  - https://hdl.handle.net/21.15107/rcub_imagine_911
ER  - 
@conference{
author = "Marjanović, Irena and Karan-Đurašević, Teodora and Kostić, Jelena and Kostić, Tatjana  and Virijević, M. and Djunić, I. and Suvajdžić-Vuković, Nada and Tomin, D. and Pavlović, Sonja and Tošić, Nataša",
year = "2016",
publisher = "Ferrata Storti Foundation, Pavia",
journal = "Haematologica-The Hematology Journal",
title = "Assessment of BAALC and MN1 gene expression level could contribute to improved prognostic stratification of the aml-nk patients",
pages = "382-382",
volume = "101",
url = "https://hdl.handle.net/21.15107/rcub_imagine_911"
}
Marjanović, I., Karan-Đurašević, T., Kostić, J., Kostić, T., Virijević, M., Djunić, I., Suvajdžić-Vuković, N., Tomin, D., Pavlović, S.,& Tošić, N.. (2016). Assessment of BAALC and MN1 gene expression level could contribute to improved prognostic stratification of the aml-nk patients. in Haematologica-The Hematology Journal
Ferrata Storti Foundation, Pavia., 101, 382-382.
https://hdl.handle.net/21.15107/rcub_imagine_911
Marjanović I, Karan-Đurašević T, Kostić J, Kostić T, Virijević M, Djunić I, Suvajdžić-Vuković N, Tomin D, Pavlović S, Tošić N. Assessment of BAALC and MN1 gene expression level could contribute to improved prognostic stratification of the aml-nk patients. in Haematologica-The Hematology Journal. 2016;101:382-382.
https://hdl.handle.net/21.15107/rcub_imagine_911 .
Marjanović, Irena, Karan-Đurašević, Teodora, Kostić, Jelena, Kostić, Tatjana , Virijević, M., Djunić, I., Suvajdžić-Vuković, Nada, Tomin, D., Pavlović, Sonja, Tošić, Nataša, "Assessment of BAALC and MN1 gene expression level could contribute to improved prognostic stratification of the aml-nk patients" in Haematologica-The Hematology Journal, 101 (2016):382-382,
https://hdl.handle.net/21.15107/rcub_imagine_911 .

Targeted next generation sequencing (ngs) in parallel analyses of childhood (caml) and adult acute myeloid leukemia (AAML) patients

Glumac, Irena; Kostić, Jelena; Stanić, B.; Pejanović, N.; Lucić, B.; Karan-Đurašević, Teodora; Janić, D.; Dokmanović, Lidija; Janković, S.; Suvajdžić-Vuković, Nada; Tomin, D.; Popović, M.; Bogicević, I.; Pavlović, Sonja; Tošić, Nataša

(Ferrata Storti Foundation, Pavia, 2015)

TY  - CONF
AU  - Glumac, Irena
AU  - Kostić, Jelena
AU  - Stanić, B.
AU  - Pejanović, N.
AU  - Lucić, B.
AU  - Karan-Đurašević, Teodora
AU  - Janić, D.
AU  - Dokmanović, Lidija
AU  - Janković, S.
AU  - Suvajdžić-Vuković, Nada
AU  - Tomin, D.
AU  - Popović, M.
AU  - Bogicević, I.
AU  - Pavlović, Sonja
AU  - Tošić, Nataša
PY  - 2015
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/824
PB  - Ferrata Storti Foundation, Pavia
C3  - Haematologica-The Hematology Journal
T1  - Targeted next generation sequencing (ngs) in parallel analyses of childhood (caml) and adult acute myeloid leukemia (AAML) patients
EP  - 360
SP  - 360
VL  - 100
UR  - https://hdl.handle.net/21.15107/rcub_imagine_824
ER  - 
@conference{
author = "Glumac, Irena and Kostić, Jelena and Stanić, B. and Pejanović, N. and Lucić, B. and Karan-Đurašević, Teodora and Janić, D. and Dokmanović, Lidija and Janković, S. and Suvajdžić-Vuković, Nada and Tomin, D. and Popović, M. and Bogicević, I. and Pavlović, Sonja and Tošić, Nataša",
year = "2015",
publisher = "Ferrata Storti Foundation, Pavia",
journal = "Haematologica-The Hematology Journal",
title = "Targeted next generation sequencing (ngs) in parallel analyses of childhood (caml) and adult acute myeloid leukemia (AAML) patients",
pages = "360-360",
volume = "100",
url = "https://hdl.handle.net/21.15107/rcub_imagine_824"
}
Glumac, I., Kostić, J., Stanić, B., Pejanović, N., Lucić, B., Karan-Đurašević, T., Janić, D., Dokmanović, L., Janković, S., Suvajdžić-Vuković, N., Tomin, D., Popović, M., Bogicević, I., Pavlović, S.,& Tošić, N.. (2015). Targeted next generation sequencing (ngs) in parallel analyses of childhood (caml) and adult acute myeloid leukemia (AAML) patients. in Haematologica-The Hematology Journal
Ferrata Storti Foundation, Pavia., 100, 360-360.
https://hdl.handle.net/21.15107/rcub_imagine_824
Glumac I, Kostić J, Stanić B, Pejanović N, Lucić B, Karan-Đurašević T, Janić D, Dokmanović L, Janković S, Suvajdžić-Vuković N, Tomin D, Popović M, Bogicević I, Pavlović S, Tošić N. Targeted next generation sequencing (ngs) in parallel analyses of childhood (caml) and adult acute myeloid leukemia (AAML) patients. in Haematologica-The Hematology Journal. 2015;100:360-360.
https://hdl.handle.net/21.15107/rcub_imagine_824 .
Glumac, Irena, Kostić, Jelena, Stanić, B., Pejanović, N., Lucić, B., Karan-Đurašević, Teodora, Janić, D., Dokmanović, Lidija, Janković, S., Suvajdžić-Vuković, Nada, Tomin, D., Popović, M., Bogicević, I., Pavlović, Sonja, Tošić, Nataša, "Targeted next generation sequencing (ngs) in parallel analyses of childhood (caml) and adult acute myeloid leukemia (AAML) patients" in Haematologica-The Hematology Journal, 100 (2015):360-360,
https://hdl.handle.net/21.15107/rcub_imagine_824 .

Neural Differentiation from Human Embryonic Stem Cells as a Tool to Study Early Brain Development and the Neuroteratogenic Effects of Ethanol

Talens-Visconti, Raquel; Sanchez-Vera, Irene; Perić, Jelena; Amparo Perez-Arago, Maria; Erceg, Slaven; Stojković, Miodrag; Guerri, Consuelo

(Mary Ann Liebert, Inc, New Rochelle, 2011)

TY  - JOUR
AU  - Talens-Visconti, Raquel
AU  - Sanchez-Vera, Irene
AU  - Perić, Jelena
AU  - Amparo Perez-Arago, Maria
AU  - Erceg, Slaven
AU  - Stojković, Miodrag
AU  - Guerri, Consuelo
PY  - 2011
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/478
AB  - The in vitro generation of neural cells from human embryonic stem cells is a powerful tool to acquire better knowledge of the cellular and molecular events involved in early human neural and brain development under physiological and pathological conditions. Prenatal alcohol exposure can induce important anomalies in the developing brain, the embryogenesis being an important critical period for the craniofacial defects and mental disabilities associated with fetal alcohol syndrome. Here, we report the generation of neural progenitors (NPs) from human embryonic stem cells. Neuroepithelial progenitors display the morphological and functional characteristics of their embryonic counterparts and the proper timing of neurons and glia cells generation. Immunocytochemical and real time (RT)-polymerase chain reaction analyses reveal that cells appeared as clusters during neuroepithelial cell proliferation and that the genes associated with the neuroectodermal (Pax-6) and the endodermic (alpha-fetoprotein) lineages decreased in parallel to the upregulation of the genes of NPs (nestin and Tuj1), followed by their differentiation into neurons (MAP-2+, GABA+), oligodendrocytes [galactocerebroside (GalC+)], and astrocytes (GFAP+). We further demonstrate, for the first time, that human NPs express the endocannabinoid receptors (CB1 and CB2) and the enzymes involved in endocannabinoids synthesis (NAPE-PLD) and degradation (FAAH). Using this in vitro culture, we demonstrate that ethanol exposure impairs NPs survival, affects the differentiation of NPs into neurons and astrocytes, disrupts the actin cytoskeleton, and affects the expression of different genes associated with neural differentiation. The results provide new insights into the effects of ethanol on human embryogenesis and neuroprogenitors and offer an opportunity to delineate potential therapeutic strategies to restore early ethanol-induced brain damage.
PB  - Mary Ann Liebert, Inc, New Rochelle
T2  - Stem Cells and Development
T1  - Neural Differentiation from Human Embryonic Stem Cells as a Tool to Study Early Brain Development and the Neuroteratogenic Effects of Ethanol
EP  - 339
IS  - 2
SP  - 327
VL  - 20
DO  - 10.1089/scd.2010.0037
ER  - 
@article{
author = "Talens-Visconti, Raquel and Sanchez-Vera, Irene and Perić, Jelena and Amparo Perez-Arago, Maria and Erceg, Slaven and Stojković, Miodrag and Guerri, Consuelo",
year = "2011",
abstract = "The in vitro generation of neural cells from human embryonic stem cells is a powerful tool to acquire better knowledge of the cellular and molecular events involved in early human neural and brain development under physiological and pathological conditions. Prenatal alcohol exposure can induce important anomalies in the developing brain, the embryogenesis being an important critical period for the craniofacial defects and mental disabilities associated with fetal alcohol syndrome. Here, we report the generation of neural progenitors (NPs) from human embryonic stem cells. Neuroepithelial progenitors display the morphological and functional characteristics of their embryonic counterparts and the proper timing of neurons and glia cells generation. Immunocytochemical and real time (RT)-polymerase chain reaction analyses reveal that cells appeared as clusters during neuroepithelial cell proliferation and that the genes associated with the neuroectodermal (Pax-6) and the endodermic (alpha-fetoprotein) lineages decreased in parallel to the upregulation of the genes of NPs (nestin and Tuj1), followed by their differentiation into neurons (MAP-2+, GABA+), oligodendrocytes [galactocerebroside (GalC+)], and astrocytes (GFAP+). We further demonstrate, for the first time, that human NPs express the endocannabinoid receptors (CB1 and CB2) and the enzymes involved in endocannabinoids synthesis (NAPE-PLD) and degradation (FAAH). Using this in vitro culture, we demonstrate that ethanol exposure impairs NPs survival, affects the differentiation of NPs into neurons and astrocytes, disrupts the actin cytoskeleton, and affects the expression of different genes associated with neural differentiation. The results provide new insights into the effects of ethanol on human embryogenesis and neuroprogenitors and offer an opportunity to delineate potential therapeutic strategies to restore early ethanol-induced brain damage.",
publisher = "Mary Ann Liebert, Inc, New Rochelle",
journal = "Stem Cells and Development",
title = "Neural Differentiation from Human Embryonic Stem Cells as a Tool to Study Early Brain Development and the Neuroteratogenic Effects of Ethanol",
pages = "339-327",
number = "2",
volume = "20",
doi = "10.1089/scd.2010.0037"
}
Talens-Visconti, R., Sanchez-Vera, I., Perić, J., Amparo Perez-Arago, M., Erceg, S., Stojković, M.,& Guerri, C.. (2011). Neural Differentiation from Human Embryonic Stem Cells as a Tool to Study Early Brain Development and the Neuroteratogenic Effects of Ethanol. in Stem Cells and Development
Mary Ann Liebert, Inc, New Rochelle., 20(2), 327-339.
https://doi.org/10.1089/scd.2010.0037
Talens-Visconti R, Sanchez-Vera I, Perić J, Amparo Perez-Arago M, Erceg S, Stojković M, Guerri C. Neural Differentiation from Human Embryonic Stem Cells as a Tool to Study Early Brain Development and the Neuroteratogenic Effects of Ethanol. in Stem Cells and Development. 2011;20(2):327-339.
doi:10.1089/scd.2010.0037 .
Talens-Visconti, Raquel, Sanchez-Vera, Irene, Perić, Jelena, Amparo Perez-Arago, Maria, Erceg, Slaven, Stojković, Miodrag, Guerri, Consuelo, "Neural Differentiation from Human Embryonic Stem Cells as a Tool to Study Early Brain Development and the Neuroteratogenic Effects of Ethanol" in Stem Cells and Development, 20, no. 2 (2011):327-339,
https://doi.org/10.1089/scd.2010.0037 . .
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