title: A novel EGFR nonsense mutation in a non-small-cell lung cancer (NSCLC) patient who did not derive any clinical benefit with combination chemotherapy and erlotinib.
abstract: Most of the somatic epidermal growth factor receptor (EGFR) mutations described to date in non-smallcell lung cancer (NSCLC) patients are located in the kinase domain and are considered activating mutations. Some of these mutations are associated with response to specific EGFR tyrosine kinase inhibitors (TKI) such as gefitinib and erlotinib. Here we report a case of a previously undescribed EGFR nonsense mutation in a lung adenocarcinoma patient who did not derive any clinical benefit with combination chemotherapy and erlotinib. To the best of our knowledge this is the second report in the literature describing an EGFR nonsense mutation in lung cancer patients.
authors.affiliation: Laboratorio de Genética Molecular y Genómica, Plataforma de Oncología USP Hospital S. Jaime, Torrevieja, Alicante, Spain. ramon.manzano@ushospitales.com
authors.forename: R
authors.initials: R
authors.lastname: González Manzano
authors.forename: E
authors.initials: E
authors.lastname: Martínez Navarro
authors.forename: E
authors.initials: E
authors.lastname: Eugenieva
authors.forename: F J
authors.initials: FJ
authors.lastname: Fernández Morejón
authors.forename: J
authors.initials: J
authors.lastname: Farré
authors.forename: A
authors.initials: A
authors.lastname: Brugarolas
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001483:Base Sequence; D002289:Carcinoma, Non-Small-Cell Lung / Q000188:drug therapy / Q000235:genetics*; D018389:Codon, Nonsense; D066246:ErbB Receptors / Q000235:genetics*; D000069347:Erlotinib Hydrochloride; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008175:Lung Neoplasms / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use*; D011799:Quinazolines / Q000627:therapeutic use*
chemical_list: D018389:Codon, Nonsense; D047428:Protein Kinase Inhibitors; D011799:Quinazolines; D000069347:Erlotinib Hydrochloride; D066246:ErbB Receptors