A woman with a pleural mesothelioma and an inherited ATM 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 Project", revealing a pathogenic ATM mutation. Due to enhanced radiosensitivity in ATM mutation carriers, to reduce adverse events conventional palliative radiotherapy (RT) was chosen over stereotactic hypofractionated RT. A follow-up computed tomography (CT) scan after 4 weeks indicated disease burden reduction.

Conclusions: This case highlights the importance of genetic testing in atypical PM cases, guiding treatment decisions tailored to individual genetic profiles. Awareness of ATM mutations can optimize therapeutic strategies, particularly regarding RT choices, in managing this challenging malignancy. Integrating genetic insights into clinical practice holds promise for enhancing treatment outcomes and refining management strategies in PM and related conditions.