EGFR exon 20 insertion mutation in Japanese lung cancer

• Published in: Lung cancer (Amsterdam, Netherlands) Vol. 58; no. 3; pp. 324 - 328
• Main Authors: Sasaki, Hidefumi, Endo, Katsuhiko, Takada, Minoru, Kawahara, Masaaki, Kitahara, Naoto, Tanaka, Hisaichi, Okumura, Meinoshin, Matsumura, Akihide, Iuchi, Keiji, Kawaguchi, Tomoya, Kawano, Osamu, Yukiue, Haruhiro, Yokoyama, Tomoki, Yano, Motoki, Fujii, Yoshitaka
• Format: Journal Article
• Language: English
• Published: Shannon Elsevier Ireland Ltd 01.12.2007; Elsevier Science
• Subjects: Aged; Asian Continental Ancestry Group - genetics; Base Sequence; Biological and medical sciences; EGFR; Exon 20; Exons - genetics; Female; Hematology, Oncology and Palliative Medicine; Humans; Insertion; Lung cancer; Lung Neoplasms - genetics; Lung Neoplasms - pathology; Male; Medical sciences; Middle Aged; Molecular Sequence Data; Mutation - genetics; Mutations; Neoplasm Recurrence, Local - pathology; Pneumology; Pulmonary/Respiratory; Quinazolines - therapeutic use; Receptor, Epidermal Growth Factor - genetics; Tomography Scanners, X-Ray Computed; Tumors; Tumors of the respiratory system and mediastinum; Asia; Japan; Insertion; Mutations; Lung cancer; EGFR; Exon 20; Lung disease; Respiratory disease; Malignant tumor; Japanese; Epidermal growth factor receptor; Cancerology; Insertion mutation; Bronchus disease; Cancer; Pneumology
• ISSN: 0169-5002; 1872-8332
• DOI: 10.1016/j.lungcan.2007.06.024

Summary Mutations of the epidermal growth factor receptor ( EGFR ) gene have been reported in non-small cell lung cancer (NSCLC), especially in female, never smoker patients with adenocarcinoma. Some common somatic mutations in EGFR , including deletion mutations in exon 19 and leucine to arginine substitution at amino acid position 858 (L858R) in exon 21, have been examined for their ability to predict sensitivity to gefitinib or erlotinib. On the other hand, previous report has shown that the insertion mutation at exon 20 is related to gefitinib resistance. We investigated the exon 20 EGFR mutation statuses in 322 surgically treated non-small cell lung cancer cases. Two hundred and five adenocarcinoma cases were included. The presence or absence of EGFR mutations of kinase domains was analyzed by direct sequences. EGFR insertion mutations at exon 20 were found from 7 of 322 (2.17%) lung cancer patients. We also detected the 18 deletion type mutations in exon 19, and 25 L858R type mutations in exon 21. There was a tendency towards higher exon 20 insertion ratio in never smoker (never smoker 4.4% versus smoker 1.3%, p = 0.0996) and female (female 4.5% versus male 1.3%, p = 0.0917). Two exon 20 insertion cases were treated with gefitinib and failed to response. EGFR insertion mutation in exon 20 could not be ignored from Japanese lung cancers.