新型胚系突变：多发肺腺癌患者及肺癌家族成员中的EGFR V843I突变

Novel germline mutation: EGFR V843I in patient with multiple lung adenocarcinomas and family members with lung cancer.

作者信息

Ikeda Koei, Nomori Hiroaki, Mori Takeshi, Sasaki Jiichiro, Kobayashi Toshiaki

机构信息

Department of Thoracic Surgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

出版信息

Ann Thorac Surg. 2008 Apr;85(4):1430-2. doi: 10.1016/j.athoracsur.2007.10.012.

DOI:10.1016/j.athoracsur.2007.10.012

PMID:18355544

Abstract

A novel germline transmission of the epidermal growth factor receptor (EGFR) mutation V843I in a family with multiple members with lung cancer is reported. The proband was a 70-year-old woman with multiple adenocarcinomas who exhibited secondary EGFR mutations, either L858R or L861Q, in the specimens of resected tumors, in addition to a germline EGFR V843I mutation. These observations suggest that the germline EGFR V843I mutation might have altered EGFR signaling in the multicentric development of adenocarcinoma, bronchoalveolar carcinoma, and atypical adenomatous hyperplasia and also might have had a role in the development of lung cancer in multiple members of her family.

摘要

据报道，在一个有多名肺癌患者的家族中发现了表皮生长因子受体（EGFR）突变V843I的新型种系传递。先证者是一名70岁女性，患有多处腺癌，除了种系EGFR V843I突变外，在切除肿瘤的标本中还表现出继发性EGFR突变，即L858R或L861Q。这些观察结果表明，种系EGFR V843I突变可能在腺癌、细支气管肺泡癌和非典型腺瘤样增生的多中心发展中改变了EGFR信号传导，并且可能在其家族多名成员的肺癌发生中起作用。