Mismatch repair deficiency and microsatellite instability in adrenocortical carcinoma.

ABSTRACT:

Background

Genetic and epigenetic alterations can cause mismatch repair (MMR) deficiency (dMMR) leading to microsatellite instability (MSI). Although dMMR/MSI predicts response to immune checkpoint inhibitors (ICIs) in several cancers, their relevance in adrenocortical carcinoma (ACC) remains unclear.

Patients and methods

We investigated the MMR system and MSI in patients with apparently sporadic ACC and explored associations with clinical characteristics and outcomes. In a subgroup, correlation between dMMR/MSI and response to ICI was evaluated. Immunohistochemistry for MLH1, PMS2, MSH2, and MSH6 was carried out in 109 ACC tissues with molecular data. Germline pathogenic/likely pathogenic (P/LP) and somatic oncogenic/likely oncogenic (O/LO) MMR variants were validated by Sa

SUBMITTER: Altieri B 

PROVIDER: S-EPMC12906187 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature