DNA直接测序技术检测EGFR基因及突变分析  

Direct gene sequencing for measurement of epithelial growth factor receptor mutation

作　　者：容毓[1] 罗凯[1] 薛兴阳[1] 贺智敏[1] 

机构地区：[1]广州医学院附属肿瘤医院肿瘤研究所,广东广州510095

出　　处：《广州医学院学报》2013年第2期29-32,共4页Academic Journal of Guangzhou Medical College

摘　　要：目的:探讨非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因突变的情况及EGFRTKI的治疗效果。方法:从94例晚期NSCLC患者的肿瘤组织中提取DNA,采用DNA直接测序技术检测EGFR基因18、19、20、21外显子的突变情况。对EGFR基因突变可评估患者采用TKI口服治疗(吉非替尼250 mg/d、厄洛替尼150mg/d),评价客观有效率(RR)、疾病控制率(DCR)及无疾病进展时间。结果:94例患者中39例(41.5%)存在EGFR基因突变,其中27例外显子19突变,2例外显子20突变,9例外显子21突变、1例外显子18突变。女性患者突变率显著高于男性(56.1%vs 30.2%,P<0.05);腺癌患者突变率高于非腺癌患者(48%vs 15.8%,P<0.05);不吸烟者突变率显著高于吸烟者(50.8%vs20.7%,P<0.05)。16例患者口服TKI后部分缓解5例、疾病稳定7例、疾病进展PD4例,客观有效率为31.2%,疾病控制率为75.0%,截至随访结束,仍有14例患者生存,无疾病进展时间为(11.31±4.44)个月,1年生存率为43.8%。结论:DNA直接测序检测晚期NSCLC患者EGFR基因突变具有高度敏感性,以EGFR基因突变结果为依据,应用TKI治疗晚期NSCLC疗效明显。Objective：To determine the epithelial growth factor receptor （EGFR） mutation and the effects of EGFR tyrosine kinase inhibitor （EGFR-TRI） in patients with non-small cell lung carcinoma （NSCLC）. Methods ： The DNA was extracted from 94 patients with NSCLC to detect exon 18-21 mutations of EGFR gene via direct DNA sequencing. 16 patients with EGFR mutation received EGFR-TKI therapy （gefitinib 250mg/d plus erlotinib 150mg/d orally） for assessment of the objective effective rate （RR） , disease control rate （DCR） and progression-free survival （PFS）. Results： Of 94 patients analyzed, 39 （41.5%） had EGFR gene mutation, in whom 27 cases had exon 19 mutation, 2 had exon 20 mutation, 9 had exon 21 mutation and a single case had exon 18 mutation. A higher mutation rate was found in females compared with males （56.1% vs. 30. 2% , P 〈 0.05） , in patients with adenoma compared with those who had non-adenoma （48.0% vs. 15.8%, P 〈 0.05 ） and in never-smokers compared with ever-smokers （50.8% vs. 20.7% , P 〈 0.05）. Of the 16 patients receiving EGFR-TKI, 5 had partial remission, 7 retained stability and 4 showed progression, corresponding to an objective response and disease control rate of 31.2% and 75% , respectively. As of the end of follow-up, there were 14 cases of survival who yielded the progression-free survival of （11.31± 4.44） months and the 1-year survival of 43.8%. Conclusion： Direct DNA sequencing is a sensitive method to detect EGFR gene mutation. TKI is effective for the treatment of advanced NSCLC as guided by EGFR gene mutation.

关 键 词：非小细胞肺癌 表皮生长因子受体 基因测序 基因突变 

分 类 号：Q523[生物学—生物化学]