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001-es BibID:	BIBFORM119214
035-os BibID:	(Scopus)85186348741
Első szerző:	Struzinská, Ivana
Cím:	Somatic Genomic and Transcriptomic Characterization of Primary Ovarian Serous Borderline Tumors and Low-Grade Serous Carcinomas / Ivana Struzinská, Nikola Hájková, Jan Hojný, Eva Krkavcová, Romana Michálková, Quang Hiep Bui, Radoslav Matej, Jan Laco, Jana Drozenová, Pavel Fabian, Petr Skapa, Zuzana Spurková, David Cibula, Filip Frühauf, Tomás Jirásek, Tomás Zima, Gábor Méhes, Michaela Kendall Bártu, Kristýna Nemejcová, Pavel Dundr
Dátum:	2024
ISSN:	1525-1578
Megjegyzések:	Low-grade serous carcinoma (LGSC) may develop from serous borderline tumor (SBT) tissue, where the micropapillary type (mSBT) presents the highest risk for progression. The sensitivity of LGSC to standard chemotherapy is limited, so alternative therapeutic approaches, including targeted treatment, are needed. However, knowledge about the molecular landscape of LGSC and mSBT is limited. A sample set of 137 pathologically well-defined cases (LGSC, 97; mSBT, 40) was analyzed using capture DNA next- generation sequencing (727 genes) and RNA next-generation sequencing (147 genes) to show the landscape of somatic mutations, gene fusions, expression pattern, and prognostic and predictive relevance. Class 4/5 mutations in the main driver genes (KRAS, BRAF, NRAS, ERBB2, USP9X ) were detected in 48% (14/29) of mSBT cases and 63% (47/75) of LGSC cases. The USP9X mutation was detected in only 17% of LGSC cases. RNA next-generation sequencing revealed gene fusions in 6 of 64 LGSC cases (9%) and 2 of 33 mSBT cases (9%), and a heterogeneous expression profile across LGSC and mSBT. No molecular characteristics were associated with greater survival. The somatic genomic and transcriptomic profiles of 35 mSBT and 85 LGSC cases are compared for the first time. Candidate oncogenic gene fusions involving BRAF, FGFR2, or NF1 as a fusion partner were identified. Molecular testing of LGSC may be used in clinical practice to reveal therapeutically significant targets.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk LGSC, SBT
Megjelenés:	Journal Of Molecular Diagnostics. - 26 : 4 (2024), p. 257-266. -
További szerzők:	Hájková, Nikola Hojny, Jan Krkavcová, Eva Michálková, Romana Bui, Quang Hiep Matej, Radoslav Laco, Jan Drozenová, Jana Fabian, Pavel Škapa, Petr Špůrková, Zuzana Cibula, David Frühauf, Filip Jirásek, Tomás Zima Tomás Méhes Gábor (1966-) (patológus) Kendall Bártů, Michaela Nĕmejcová, Kristýna Dundr, Pavel
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