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Genomic Sub-Classification of Ovarian Clear Cell Carcinoma Revealed by Distinct Mutational Signatures

2021; Multidisciplinary Digital Publishing Institute; Volume: 13; Issue: 20 Linguagem: Inglês

10.3390/cancers13205242

2072-6694

Douglas V.N.P. Oliveira, Tine Henrichsen Schnack, Tim Svenstrup Poulsen, Anne Pernille Christiansen, Claus Høgdall, Estrid Høgdall,

Cancer Genomics and Diagnostics

Ovarian clear cell carcinoma (OCCC) is characterized by dismal prognosis, partially due to its low sensitivity to standard chemotherapy regimen. It is also well-known for presenting unique molecular features in comparison to other epithelial ovarian cancer subtypes. Here, we aim to identify potential subgroups of patients in order to (1) determine their molecular features and (2) characterize their mutational signature. Furthermore, we sought to perform the investigation based on a potentially clinically relevant setting. To that end, we assessed the mutational profile and genomic instability of 55 patients extracted from the Gynecologic Cancer Database (DGCD) by using a panel comprised of 409 cancer-associated genes and a microsatellite assay, respectively; both are currently used in our routine environment. In accordance with previous findings,