Uncommon V599E BRAF mutations in Japanese patients with lung cancer
Uncommon V599E BRAF mutations in Japanese patients with lung cancer
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DOI：
10.1016/j.jss.2005.10.022
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发表时间：
2006-06-15
影响因子：
2.2
通讯作者：
Fujii, Yoshitaka
中科院分区：
文献类型：
--
作者：
Sasaki, Hidefumi;Kawano, Osamu;Fujii, Yoshitaka
背景近年来，在肺癌患者中发现了表皮生长因子受体（EGFR）基因和Braf基因的体细胞突变。这些突变可能与分子靶向治疗的临床反应相关。虽然少数白人肺癌患者携带BRAF突变，但尚未有关于日本肺癌患者BRAF突变的报道。我们调查了日本肺癌患者的BRAF突变。该研究包括129例手术切除的肺癌病例，来自名古屋市立大学医院。采用逆转录聚合酶链反应（RT-PCR）和直接测序法检测Braf、EGFR和erbB 2基因突变。在外显子15，一个BRAF突变（1796胸腺嘧啶腺嘌呤; V599 E）被发现在非吸烟妇女高分化腺癌。我们检测到43个EGFR突变，包括19个外显子19和20个外显子21，从129例分析患者（33.3%）。我们还检测到一个erbB 2突变76例分析。这些突变均为排他性突变。V599 E BRAF突变在日本肺癌中并不常见。所有这三种基因突变主要见于女性非吸烟腺癌患者。然而，完全排他性的突变状态将有助于我们选择针对肺癌的定制分子靶向治疗。(c)2006年爱思唯尔公司All rights reserved.
Background. Recently, somatic mutations of the epidermal growth factor receptor (EGFR) gene and Braf gene were found in patients with lung cancer. These mutations might be correlated with a clinical response to molecular target therapy. Although a few Caucasian lung cancer patients harbored BRAF mutations, there have been no reports about the BRAF mutation in Japanese patients with lung cancer.Materials and methods. We investigated BRAF mutations in Japanese lung cancer patients. The study included 129 surgically removed lung cancer cases from Nagoya City University Hospital. Braf, EGFR, and erbB2 mutations also were analyzed by reverse transcript polymerase chain reaction (RT-PCR) and direct sequencing.Results. In exon 15, one BRAF mutation (1796 thymine to adenine; V599E) was found in nonsmoking woman with well-differentiated adenocarcinoma. We detected the 43 EGFR mutations, including 19 at exon 19 and 20 at exon 21 from the 129 patients analyzed (33.3%). We also detected one erbB2 mutation from 76 patients analyzed. All these mutations existed exclusively.Conclusions. V599E BRAF mutation was uncommon in Japanese lung cancer. All three genes mutations were predominantly found in female nonsmoking subjects with adenocarcinomas. However, completely exclusive mutation status would help us to choose custom-made molecular target therapy for the lung cancer. (c) 2006 Elsevier Inc. All rights reserved.