Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers.

ABSTRACT:

Background

Mismatch-repair (MMR)/microsatellite instability (MSI) status has therapeutic implications in endometrial cancer (EC). The authors evaluated the concordance of testing and factors contributing to MMR expression heterogeneity.

Methods

Six hundred sixty-six ECs were characterized using immunohistochemistry (IHC), MSI testing, and mut-L homolog 1 (MLH1) methylation. Select samples underwent whole-transcriptome analysis and next-generation sequencing. MMR expression of metastatic/recurrent sites was evaluated.

Results

MSI testing identified 27.3% of cases as MSI-high (n = 182), MMR IHC identified 25.1% cases as MMR-deficient (n = 167), and 3.8% of cases (n = 25) demonstrated discordant results. A review of IHC staining explained discordant results in 18 cases,

SUBMITTER: Riedinger CJ 

PROVIDER: S-EPMC10843110 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature