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001-es BibID:	BIBFORM113119
035-os BibID:	(wos)001002555100001 (scopus)85161669317 (cikkazonosító)72
Első szerző:	Struzinská, Ivana
Cím:	A comprehensive molecular analysis of 113 primary ovarian clear cell carcinomas reveals common therapeutically significant aberrations / Struzinská Ivana, Hájková Nikola, Hojny Jan, Krkavcová Eva, Michálková Romana, Dvorák Jirí, Nemejcová Kristyna, Matej Radoslav, Laco Jan, Drozenová Jana, Fabian Pavel, Hausnerová Jitka, Méhes Gábor, Skapa Petr, Svajdler Marián, Cibula David, Frühauf Filip, Bártu Michaela Kendall, Dundr Pavel
Dátum:	2023
ISSN:	1746-1596
Megjegyzések:	Background Molecular 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. Methods 113 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. Results The 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. Conclusions The 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.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Diagnostic Pathology. - 18 : 1 (2023), p. 1-12. -
További szerzők:	Hájková, Nikola Hojny, Jan Krkavcová, Eva Michálková, Romana Dvorak, Jiri Nĕmejcová, Kristýna Matej, Radoslav Laco, Jan Drozenová, Jana Fabian, Pavel Hausnerová, Jitka Méhes Gábor (1966-) (patológus) Škapa, Petr Svajdler, Marián Cibula, David Frühauf, Filip Bártủ, Michaela Dundr, Pavel
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