title: EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature.
abstract: 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.
authors.affiliation: Department of Respiratory Medicine, Pontchaillou Hospital, Rennes 1 University, 2 rue Henri-Le-Guilloux, 35033 Rennes cedex 9, France.
authors.forename: Charles
authors.initials: C
authors.lastname: Ricordel
authors.affiliation: Department of Respiratory Medicine, Pontchaillou Hospital, Rennes 1 University, 2 rue Henri-Le-Guilloux, 35033 Rennes cedex 9, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Labalette-Tiercin
authors.affiliation: Molecular Genetics and Genomics department, Pontchaillou Hospital, Rennes 1 University, 2 rue Henri-Le-Guilloux, 35033 Rennes cedex 9, France.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Lespagnol
authors.affiliation: Department of Respiratory Medicine, Pontchaillou Hospital, Rennes 1 University, 2 rue Henri-Le-Guilloux, 35033 Rennes cedex 9, France.
authors.forename: Mallorie
authors.initials: M
authors.lastname: Kerjouan
authors.affiliation: Department of Clinical Genetics, South Hospital, Rennes 1 University, 16 Boulevard de Bulgarie, 35200 Rennes, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Dugast
authors.affiliation: Molecular Genetics and Genomics department, Pontchaillou Hospital, Rennes 1 University, 2 rue Henri-Le-Guilloux, 35033 Rennes cedex 9, France.
authors.forename: Jean
authors.initials: J
authors.lastname: Mosser
authors.affiliation: Department of Respiratory Medicine, Pontchaillou Hospital, Rennes 1 University, 2 rue Henri-Le-Guilloux, 35033 Rennes cedex 9, France.
authors.forename: Benoit
authors.initials: B
authors.lastname: Desrues
authors.affiliation: Department of Respiratory Medicine, Pontchaillou Hospital, Rennes 1 University, 2 rue Henri-Le-Guilloux, 35033 Rennes cedex 9, France. Electronic address: herve.lena@chu-rennes.fr.
authors.forename: Hervé
authors.initials: H
authors.lastname: Léna
mesh_terms: D000230:Adenocarcinoma / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D000077192:Adenocarcinoma of Lung; D066246:ErbB Receptors / Q000235:genetics*; D005091:Exons; D005260:Female; D016158:Genes, p53; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008175:Lung Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D066246:ErbB Receptors
keywords: Epidermal growth factor receptor; Genetic predisposition to cancer; Li-Fraumeni syndrome; Molecular biology; Non-small cell lung cancer; Tyrosine kinase inhibitor