Molekularni profil timoma
Molecular profile of thymoma
Апстракт
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.
Кључне речи:
timomi / sekvenciranje nove generacije / varijante / thymoma / next-generation sequencing / variantsИзвор:
Treći kongres biologa Srbije, 2022, 2, 143-153Издавач:
- Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo
Финансирање / пројекти:
- Ретке болести: молекуларна патофизиологија, дијагностички и терапијски модалитети и социјални, етички и правни аспекти (RS-MESTD-Integrated and Interdisciplinary Research (IIR or III)-41004)
- EC EU-FP7-REGPOT-316088, 2013-2016
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - 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 .