Acute myeloid leukemia with NUP98-HOXC13 fusion and FLT3 internal tandem duplication mutation: case report and literature review
Abstract
The NUP98 gene at chromosome band 11p15 is known to be fused to a number of different partners in various hematological malignancies. The most frequently observed fusion partners of NUP98 are the homeobox family of transcriptional factors (HOX genes). We report a case of de novo AML M4 subtype, with a t(11;12)(p15;q13) translocation, generating a NUP98-HOXC13 chimeric transcript. Molecular analysis showed that the exon 16 of NUP98 was fused in frame with exon 2 of HOXC13. The patient was also positive for FLT3 internal tandem duplication (ITD), another molecular marker for the disease. Comparative study of data on the fusion of HOW cluster and NUP98 gene revealed that it is a rare event, found exclusively in AML patients. To our knowledge, this is the first case of t(11;12)(p15;q13) in de novo AML-M4 in association with FLT3 ITD mutation. Coexistence of NUP98-HOXC13 fusion and FLT3 ITD mutation is likely relevant in the process of leukemogenesis.
Source:
Cancer Genetics and Cytogenetics, 2009, 193, 2, 98-103Publisher:
- Elsevier Science Inc, New York
Funding / projects:
- Molekularno genetski markeri klonskog preobražaja matičnih ćelija hematopoeze (RS-MESTD-MPN2006-2010-145061)
DOI: 10.1016/j.cancergencyto.2009.03.007
ISSN: 0165-4608
PubMed: 19665070
WoS: 000269189100005
Scopus: 2-s2.0-68049142925
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Institution/Community
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Tošić, Nataša AU - Stojiljković, Maja AU - Čolović, Nataša AU - Colović, Milica AU - Pavlović, Sonja PY - 2009 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/358 AB - The NUP98 gene at chromosome band 11p15 is known to be fused to a number of different partners in various hematological malignancies. The most frequently observed fusion partners of NUP98 are the homeobox family of transcriptional factors (HOX genes). We report a case of de novo AML M4 subtype, with a t(11;12)(p15;q13) translocation, generating a NUP98-HOXC13 chimeric transcript. Molecular analysis showed that the exon 16 of NUP98 was fused in frame with exon 2 of HOXC13. The patient was also positive for FLT3 internal tandem duplication (ITD), another molecular marker for the disease. Comparative study of data on the fusion of HOW cluster and NUP98 gene revealed that it is a rare event, found exclusively in AML patients. To our knowledge, this is the first case of t(11;12)(p15;q13) in de novo AML-M4 in association with FLT3 ITD mutation. Coexistence of NUP98-HOXC13 fusion and FLT3 ITD mutation is likely relevant in the process of leukemogenesis. PB - Elsevier Science Inc, New York T2 - Cancer Genetics and Cytogenetics T1 - Acute myeloid leukemia with NUP98-HOXC13 fusion and FLT3 internal tandem duplication mutation: case report and literature review EP - 103 IS - 2 SP - 98 VL - 193 DO - 10.1016/j.cancergencyto.2009.03.007 ER -
@article{ author = "Tošić, Nataša and Stojiljković, Maja and Čolović, Nataša and Colović, Milica and Pavlović, Sonja", year = "2009", abstract = "The NUP98 gene at chromosome band 11p15 is known to be fused to a number of different partners in various hematological malignancies. The most frequently observed fusion partners of NUP98 are the homeobox family of transcriptional factors (HOX genes). We report a case of de novo AML M4 subtype, with a t(11;12)(p15;q13) translocation, generating a NUP98-HOXC13 chimeric transcript. Molecular analysis showed that the exon 16 of NUP98 was fused in frame with exon 2 of HOXC13. The patient was also positive for FLT3 internal tandem duplication (ITD), another molecular marker for the disease. Comparative study of data on the fusion of HOW cluster and NUP98 gene revealed that it is a rare event, found exclusively in AML patients. To our knowledge, this is the first case of t(11;12)(p15;q13) in de novo AML-M4 in association with FLT3 ITD mutation. Coexistence of NUP98-HOXC13 fusion and FLT3 ITD mutation is likely relevant in the process of leukemogenesis.", publisher = "Elsevier Science Inc, New York", journal = "Cancer Genetics and Cytogenetics", title = "Acute myeloid leukemia with NUP98-HOXC13 fusion and FLT3 internal tandem duplication mutation: case report and literature review", pages = "103-98", number = "2", volume = "193", doi = "10.1016/j.cancergencyto.2009.03.007" }
Tošić, N., Stojiljković, M., Čolović, N., Colović, M.,& Pavlović, S.. (2009). Acute myeloid leukemia with NUP98-HOXC13 fusion and FLT3 internal tandem duplication mutation: case report and literature review. in Cancer Genetics and Cytogenetics Elsevier Science Inc, New York., 193(2), 98-103. https://doi.org/10.1016/j.cancergencyto.2009.03.007
Tošić N, Stojiljković M, Čolović N, Colović M, Pavlović S. Acute myeloid leukemia with NUP98-HOXC13 fusion and FLT3 internal tandem duplication mutation: case report and literature review. in Cancer Genetics and Cytogenetics. 2009;193(2):98-103. doi:10.1016/j.cancergencyto.2009.03.007 .
Tošić, Nataša, Stojiljković, Maja, Čolović, Nataša, Colović, Milica, Pavlović, Sonja, "Acute myeloid leukemia with NUP98-HOXC13 fusion and FLT3 internal tandem duplication mutation: case report and literature review" in Cancer Genetics and Cytogenetics, 193, no. 2 (2009):98-103, https://doi.org/10.1016/j.cancergencyto.2009.03.007 . .