EGFR exon 20 insertion mutation in Japanese lung cancer
EGFR exon 20 insertion mutation in Japanese lung cancer
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DOI：
10.1016/j.lungcan.2007.06.024
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发表时间：
2007-12-01
期刊：
影响因子：
5.3
通讯作者：
Fujii, Yoshitaka
中科院分区：
文献类型：
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作者：
Sasaki, Hidefumi;Endo, Katsuhiko;Fujii, Yoshitaka
表皮生长因子受体（EGFR）基因突变在非小细胞肺癌（NSCLC）中已有报道，尤其是在女性、从不吸烟的腺癌患者中。EGFR中的一些常见体细胞突变，包括外显子19中的缺失突变和外显子21中氨基酸位置858（L858 R）处的亮氨酸至精氨酸取代，已检查了其预测吉非替尼或厄洛替尼敏感性的能力。另一方面，既往研究表明20号外显子的插入突变与吉非替尼耐药有关。我们调查了322例手术治疗的非小细胞肺癌患者的EGFR 20号外显子突变状态。纳入了205例腺癌病例。通过直接测序分析激酶结构域的EGFR突变的存在或不存在。322例肺癌患者中有7例（2.17%）发现EGFR第20外显子插入突变。在外显子19中检测到18个缺失型突变，在外显子21中检测到25个L858R型突变。从不吸烟者（从不吸烟者4.4% vs吸烟者1.3%，p=0.0996）和女性（女性4.5% vs伴侣1.3%，p=0.0917）中外显子20插入率有较高的趋势。2例20号外显子插入病例接受吉非替尼治疗，但无效。日本人肺癌中EGFR 20号外显子插入突变不容忽视。(c)2007爱思唯尔爱尔兰有限公司保留所有权利。
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 mate 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. (c) 2007 Elsevier Ireland Ltd. All rights reserved.