A woman with a pleural mesothelioma and an inherited <i>ATM</i> mutation-a case report.

ABSTRACT:

Background

Pleural mesothelioma (PM) is a rare and aggressive malignancy primarily linked to asbestos exposure. Up to 80% of patients have a history of such exposure. Several studies have investigated the possibility of a genetic predisposition for a subgroup of PM patients, but the data remains inconsistent. The ataxia-telangiectasia mutated (ATM) gene, crucial for DNA repair, is implicated in cancer susceptibility, with heterozygous mutations increasing risks, notably in breast and pancreatic cancers.

Case description

We present a case of a 42-year-old woman, with no asbestos exposure history, diagnosed with metastatic PM. Initial treatment with immunotherapy showed limited efficacy. Given the rarity in young females, she opted for genetic testing via "The Screen Pr

SUBMITTER: Seca M 

PROVIDER: S-EPMC11921236 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature