【作者】 李睿； 陈元； 冷彦；

【机构】 华中科技大学附属同济医院肿瘤科；

【摘要】 目的检测非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)的突变,探讨突变特征及其在肺癌治疗中的意义。方法收集46例手术切除肺癌组织及其癌旁组织,分别提取 DNA,采用 PCR 法扩增编码 EGFR 基因的第18、19、20及 21外显子片段,对扩增片段进行 DNA 测序及分析。结果 46例 NSCLC 患者中12 例(12/46,26.1%)患者肺癌组织存在 EGFR 酪氨酸激酶结合域的体细胞突变。癌旁组织均未发现突变。12例突变中,9例(9/12,75.0%)19号外显子上发生缺失突变,3例(3/12,25.0%)21号外显子上发生替代突变。伴细支气管肺泡癌分化特征的肺腺癌突变率(7/9,77.8%)显著高于普通腺癌(5/23,21.7%)和鳞癌(0/12, 0.0%)的突变率;女性突变率(9/5,60%)显著高于男性(3/31,9.7%);不吸烟者突变率(9/20,45%)显著高于吸烟者(3/26,11.5%)。结论国内 NSCLC 患者存在 EGFR 突变,女性,非吸烟者及伴细支气管肺泡癌分化特征的肺腺癌提示突变的高发生性。更多还原

【Abstract】 Objective To detect the mutations of epidermal growth factor receptor(EGFR)in patients with non-samll-cell lung cancer(NSCLC),and to investigate the characteristics of EGFR mutation and its biological significance of treatment for NSCLC.Method Fresh specimens of lung cancer tissues and corresponding paracarcinoma tissues were collected from 46 NSCLC patients.DNA was extracted from the 46 specimens respectively.Exon18,19,20,21 EGFR genes were amplified by PCR to be sequenced.Result Somatic mutations in tyrosine kinase(TK)domain of EGFR in 12 of 46 NSCLC patients(26.1%)were identified in carcinoma tissues.Mutations were not found in corresponding paracarcinoma tissues.For 12 mutations,9 cases(9/12,75.0%) are in-frame deletion in exon 19 and 3 cases(3/12,25.0%)are amino acid substitution in exon 21.Mutation rate was significantly higher in adenocarcinoma with bronchioloalveolar carcinoma(BAC)component(7/9,77.8%)than pure adenocarcinoma (5/23,21.7%),significantly higher in women(9/15,60%)than men(3/31,9.7%),significantly higher in non-smokers(9/20,45%)than smokers(3/26,11.5%).Conclusion Somatic mutations of EGFR gene exist in NSCLC patients of China.Female,non-smoker and adenocarcinoma with any degree of BAC predicted higher presence of EGFR mutations.更多还原