Somatic genomic and transcriptomic characterization of primary ovarian serous borderline tumors and low-grade serous carcinomas
The result's identifiers
Result code in 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>
Alternative codes found
RIV/00209805:_____/24:00079654 RIV/46747885:24530/24:00013441 RIV/00216208:11110/24:10474700 RIV/00216208:11120/24:43926580 and 8 more
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
Somatic genomic and transcriptomic characterization of primary ovarian serous borderline tumors and low-grade serous carcinomas
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30109 - Pathology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Molecular Diagnostics
ISSN
1525-1578
e-ISSN
1943-7811
Volume of the periodical
26
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
10
Pages from-to
257-266
UT code for WoS article
001220816800001
EID of the result in the Scopus database
2-s2.0-85186348741