Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

ABSTRACT:

Background

Endometrial cancer represents a significant global health challenge, with undifferentiated and dedifferentiated endometrial carcinoma (UDEC) being a particularly aggressive subset.

Methods

We employed whole-exome sequencing (WES) to comprehensively characterize the molecular landscape of 29 UDECs in a single institution cohort. We analyzed driver mutations, molecular subgroups, SWI/SNF complex, DNA mismatch repair (MMR) pathways, and somatic copy number alterations (SCNAs).

Results

We identified 5 (17%) ultramutated tumors, 14 (48%) DNA mismatch repair (MMR)-deficient tumors, and 10 (35%) mutation-low tumors in this cohort. Mutations in the SWI/SNF family and other driver genes are common, including PTEN, ARID1A, KMT2B, ARID1B, SMARCA4, and PIK3CA. Genomic

SUBMITTER: Huang CY 

PROVIDER: S-EPMC12512612 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature