EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: Report of two cases and review of the literature.

Charles Ricordel (1, 1) , Marie Labalette-Tiercin (1, 1) , Alexandra Lespagnol (2) , Mallorie Kerjouan (1, 1) , Catherine Dugast (3) , Jean Mosser (2) , Benoit Desrues (1, 1) , Hervé Léna (1, 1)

1 Service de pneumologie [Rennes] = Pneumology [Rennes]
2 Hôpital Pontchaillou
3 Département d'oncologie médicale [Rennes]

We report two cases of non-smoker patients diagnosed with EGFR-mutated lung adenocarcinoma and bearing germinal TP53 gene mutation, also known as Li-Fraumeni syndrome (LFS). We describe for the first time an EGFR-TKI resistance mutation in this population. Finally, we provide an analysis of discerning epidemiological data obtained from the IARC database and from all the published cases of EGFR-mutated lung cancer in TP53 germline mutation carriers.

Keywords: Tyrosine Kinase Inhibitor; Molecular biology; Genetic predisposition to cancer; Epidermal Growth Factor Receptor; Li-Fraumeni syndrome; Non-small cell lung cancer

Domains: Life Sciences [q-bio]; Human health and pathology; Pulmonology and respiratory tract

Charles Ricordel, Marie Labalette-Tiercin, Alexandra Lespagnol, Mallorie Kerjouan, Catherine Dugast, et al.. EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: Report of two cases and review of the literature.. Lung Cancer, 2015, 87 (1), pp.80-4. ⟨10.1016/j.lungcan.2014.11.005⟩. ⟨hal-01092877⟩