Somatic genomic and transcriptomic characterization of primary ovarian serous borderline tumors and low-grade serous carcinomas

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11150%2F24%3A10474700" target="_blank" >RIV/00216208:11150/24:10474700 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00209805:_____/24:00079654 RIV/46747885:24530/24:00013441 RIV/00216208:11110/24:10474700 RIV/00216208:11120/24:43926580 a 8 dalších

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=3NwAGP4jSI" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=3NwAGP4jSI</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jmoldx.2023.12.004" target="_blank" >10.1016/j.jmoldx.2023.12.004</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Somatic genomic and transcriptomic characterization of primary ovarian serous borderline tumors and low-grade serous carcinomas

Popis výsledku v původním jazyce

Low-grade serous carcinomas (LGSC) probably develop from serous borderline tumors (SBT), where the micropapillary type (mSBT) has the highest risk of progression. The sensitivity of LGSC to standard chemotherapy is limited, so alternative therapeutic approaches are needed, including targeted treatment. However, current knowledge about molecular landscape of LGSC and mSBT is limited. A sample set of 137 pathologically well-defined cases of 40 mSBT and 97 LGSC was analysed using capture DNA NGS (727 genes) and RNA-Seq (147 genes) to show the landscape of somatic mutations, gene fusions, and the expression pattern, as well as their prognostic and predictive relevance. Class 4/5 mutations in the main driver genes (KRAS, BRAF, NRAS, ERBB2; USP9X) have been detected in 48% (14/29) mSBT and 63% (47/75) LGSC. The USP9X mutation was detected only in 17% LGSC. RNA-Seq revealed gene fusions in 6/64 (9%) LGSC and 2/33 (9%) mSBT, and a heterogeneous expression profile across mSBT and LGSC. No association of any molecular characteristics with better survival was found. This study presents and compares the somatic genomic and transcriptomic profile of 35 mSBT and 85 LGSC which is being described 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.

Název v anglickém jazyce

Somatic genomic and transcriptomic characterization of primary ovarian serous borderline tumors and low-grade serous carcinomas

Popis výsledku anglicky

Low-grade serous carcinomas (LGSC) probably develop from serous borderline tumors (SBT), where the micropapillary type (mSBT) has the highest risk of progression. The sensitivity of LGSC to standard chemotherapy is limited, so alternative therapeutic approaches are needed, including targeted treatment. However, current knowledge about molecular landscape of LGSC and mSBT is limited. A sample set of 137 pathologically well-defined cases of 40 mSBT and 97 LGSC was analysed using capture DNA NGS (727 genes) and RNA-Seq (147 genes) to show the landscape of somatic mutations, gene fusions, and the expression pattern, as well as their prognostic and predictive relevance. Class 4/5 mutations in the main driver genes (KRAS, BRAF, NRAS, ERBB2; USP9X) have been detected in 48% (14/29) mSBT and 63% (47/75) LGSC. The USP9X mutation was detected only in 17% LGSC. RNA-Seq revealed gene fusions in 6/64 (9%) LGSC and 2/33 (9%) mSBT, and a heterogeneous expression profile across mSBT and LGSC. No association of any molecular characteristics with better survival was found. This study presents and compares the somatic genomic and transcriptomic profile of 35 mSBT and 85 LGSC which is being described 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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30109 - Pathology

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2024

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Molecular Diagnostics

ISSN

1525-1578

e-ISSN

1943-7811

Svazek periodika

26

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

10

Strana od-do

257-266

Kód UT WoS článku

001220816800001

EID výsledku v databázi Scopus

2-s2.0-85186348741