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@article{2296992,
author = {Struzinska, Ivana and Hajkova, Nikola and Hojny, Jan and Krkavcova, Eva and Michalkova, Romana and Dvorak, Jiri and Nemejcova, Kristyna and Matej, Radoslav and Laco, Jan and Drozenova, Jana and Fabian, Pavel and Hausnerová, Jitka and Mehes, Gabor and Skapa, Petr and Svajdler, Marian and Cibula, David and Fruhauf, Filip and Kendall Bartu, Michaela Kendall and Dundr, Pavel},
article_location = {LONDON},
article_number = {1},
doi = {http://dx.doi.org/10.1186/s13000-023-01358-0},
keywords = {Capture DNA NGS; RNA-Seq; Rare ovarian tumors; POLE mutation},
language = {eng},
issn = {1746-1596},
journal = {Diagnostic Pathology},
title = {A comprehensive molecular analysis of 113 primary ovarian clear cell carcinomas reveals common therapeutically significant aberrations},
url = {https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-023-01358-0},
volume = {18},
year = {2023}
}
TY - JOUR
ID - 2296992
AU - Struzinska, Ivana - Hajkova, Nikola - Hojny, Jan - Krkavcova, Eva - Michalkova, Romana - Dvorak, Jiri - Nemejcova, Kristyna - Matej, Radoslav - Laco, Jan - Drozenova, Jana - Fabian, Pavel - Hausnerová, Jitka - Mehes, Gabor - Skapa, Petr - Svajdler, Marian - Cibula, David - Fruhauf, Filip - Kendall Bartu, Michaela Kendall - Dundr, Pavel
PY - 2023
TI - A comprehensive molecular analysis of 113 primary ovarian clear cell carcinomas reveals common therapeutically significant aberrations
JF - Diagnostic Pathology
VL - 18
IS - 1
SP - 1-12
EP - 1-12
PB - BMC
SN - 17461596
KW - Capture DNA NGS
KW - RNA-Seq
KW - Rare ovarian tumors
KW - POLE mutation
UR - https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-023-01358-0
N2 - BackgroundMolecular aberrations occurring in primary ovarian clear cell carcinoma (OCCC) can be of diagnostic, predictive, and prognostic significance. However, a complex molecular study including genomic and transcriptomic analysis of large number of OCCC has been lacking.Methods113 pathologically confirmed primary OCCCs were analyzed using capture DNA NGS (100 cases; 727 solid cancer related genes) and RNA-Seq (105 cases; 147 genes) in order to describe spectra and frequency of genomic and transcriptomic alterations, as well as their prognostic and predictive significance.ResultsThe most frequent mutations were detected in genes ARID1A, PIK3CA, TERTp, KRAS, TP53, ATM, PPP2R1A, NF1, PTEN, and POLE (51,47,27,18,13,10,7,6,6, and 4%, respectively). TMB-High cases were detected in 9% of cases. Cases with POLEmut and/or MSI-High had better relapse-free survival. RNA-Seq revealed gene fusions in 14/105 (13%) cases, and heterogeneous expression pattern. The majority of gene fusions affected tyrosine kinase receptors (6/14; four of those were MET fusions) or DNA repair genes (2/14). Based on the mRNA expression pattern, a cluster of 12 OCCCs characterized by overexpression of tyrosine kinase receptors (TKRs) AKT3, CTNNB1, DDR2, JAK2, KIT, or PDGFRA (p < 0.00001) was identified.ConclusionsThe current work has elucidated the complex genomic and transcriptomic molecular hallmarks of primary OCCCs. Our results confirmed the favorable outcomes of POLEmut and MSI-High OCCC. Moreover, the molecular landscape of OCCC revealed several potential therapeutical targets. Molecular testing can provide the potential for targeted therapy in patients with recurrent or metastatic tumors.
ER -
STRUZINSKA, Ivana, Nikola HAJKOVA, Jan HOJNY, Eva KRKAVCOVA, Romana MICHALKOVA, Jiri DVORAK, Kristyna NEMEJCOVA, Radoslav MATEJ, Jan LACO, Jana DROZENOVA, Pavel FABIAN, Jitka HAUSNEROVÁ, Gabor MEHES, Petr SKAPA, Marian SVAJDLER, David CIBULA, Filip FRUHAUF, Michaela Kendall KENDALL BARTU and Pavel DUNDR. A comprehensive molecular analysis of 113 primary ovarian clear cell carcinomas reveals common therapeutically significant aberrations. \textit{Diagnostic Pathology}. LONDON: BMC, 2023, vol.~18, No~1, p.~1-12. ISSN~1746-1596. Available from: https://dx.doi.org/10.1186/s13000-023-01358-0.
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