Co-mutation of PCLO and SYNE1 defines an immune-activated endometrial cancer subtype with favorable prognosis.

ABSTRACT:

Background

Endometrial cancer (EC) is a genomically heterogeneous malignancy with diverse immune microenvironment profiles. Although POLE mutations and MSI-H status are established predictors of immunotherapy response, additional composite biomarkers that integrate mutational burden and immune activation are needed. PCLO and SYNE1 are frequently mutated structural genes in EC, yet their cooperative significance remains unknown.

Methods

We analyzed 505 EC cases from The Cancer Genome Atlas (TCGA) and 95 additional samples from the Clinical Proteomic Tumor Analysis Consortium (CPTAC), stratifying tumors based on PCLO and SYNE1 mutation status. Genomic, transcriptomic, immunologic, and clinical features were compared between co-mutation and non-co-mutation groups. Differential

SUBMITTER: Wu C 

PROVIDER: S-EPMC12436211 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature