Molecular characterization of mixed-histology endometrial carcinoma provides prognostic and therapeutic value over morphologic findings.

ABSTRACT: We performed molecular analysis of a single-institution cohort of clinically diagnosed mixed-histology endometrial carcinoma (MEC). A gynecologic pathologist confirmed that 72 cases met diagnostic criteria for MEC based on WHO 2020 guidelines, and these were molecularly classified using both a DNA-based and histologic approach. Tumors were classified as: POLE-mutated (13.9%), microsatellite instability (MSI)-high/mismatch repair deficient (MMRd) (26.4%), TP53/p53 abnormal (p53abnl) (48.6%), no specific molecular profile (NSMP) (11.1%). Recurrence risk significantly differed based upon molecular class, but not histology. 44% of MEC cases had a HER2 IHC score of 2-3+, and this was not limited to p53abnl tumors. Transcriptional analysis demonstrated 93 differentially expressed genes between p

SUBMITTER: Haight PJ 

PROVIDER: S-EPMC11807167 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature