Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.

ABSTRACT: Carcinosarcoma (CS) of the uterus or ovary is a rare, aggressive and biphasic neoplasm composed of carcinoma and sarcoma elements. Previous genomic studies have identified the driver genes and genomic properties associated with CS. However, there is still no molecular subtyping scheme with clinical relevance for this disease. Here, we sequence 109 CS samples, focusing on 596 genes. We identify four molecular subtypes that resemble those observed in endometrial carcinoma: POLE-mutated, microsatellite instability, copy number high, and copy number low subtypes. These molecular subtypes are linked with DNA repair deficiencies, potential therapeutic strategies, and multiple clinicopathological features, including patient outcomes. Multi-regional comparative sequencing reveals genomic alteratio

SUBMITTER: Gotoh O 

PROVIDER: S-EPMC6823358 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature