In-depth molecular profiling of the biphasic components of uterine carcinosarcomas.

摘要: Uterine carcinosarcoma is a clinically aggressive malignancy composed of mix carcinomatous and sarcomatous elements. We performed targeted next-generation sequencing 27 uterine cancer sarcoma genes together with immunohistochemical analyses selected proteins in 30 carcinosarcomas. This included 13 cases which the distinct carcinoma components were sequenced separately 10 where metastatic tumours analysed addition to primary tumours. identified non-synonymous somatic mutations 90% cases, (90%) harbouring TP53 alterations. The PI3K pathway was most commonly mutated signalling PIK3CA, PTEN, PIK3R1, and/or PIK3R2 two-thirds cases. Mutations FBXW7, PPP2R1A, ARID1A KRAS demonstrated minority In analysed, present both components, indicating common origin for two components. Furthermore, same alterations seen also sites. Overall, carcinosarcomas exhibited heterogeneous molecular features that resemble heterogeneity endometrial carcinomas, some showing endometrioid carcinoma-like others serous mutation profiles. While patients serous-like presented more frequently advanced-stage disease compared endometrioid-like tumours, there no statistical difference outcome between groups. Our results provide insights into oncogenesis identify targetable represent early oncogenic events. findings different types parallel may have future treatment implications therapies.