Quelle place pour l'oncogénétique dans la prise en charge du cancer du poumon ?

Abstract

Molecular profiling of lung cancer is a key tool in thoracic oncology. It aims to identify actionable tumor variants. However, it can also reveal an underlying genetic predisposition. The two main lung cancer predisposition syndromes are linked to germline pathogenic variants in EGFR, especially T790M, and to Li-Fraumeni syndrome, caused by TP53 variants. In young and/or never-smoker patients with adenocarcinoma, a genetic cause should be considered. A double EGFR alteration in the tumor may suggest a germline predisposition. Similarly, the presence of a germline TP53 variant along with a somatic EGFR or ROS1 alteration may indicate Li-Fraumeni syndrome. Identifying a germline variant has major implications for patients and their family. Asymptomatic carriers are often found among relatives, who may benefit from genetic counseling and surveillance. Although rare, these situations are being identified more often due to routine molecular testing. Awareness among oncologists and close collaboration with cancer genetics teams are essential for proper diagnosis and management 1877-1203/© 2025 SPLF. Published by Elsevier Masson SAS. All rights reserved.