HRM法检测肺癌EGFR基因突变

EGFR gene mutant tested by high resolution melting method in lung cancer

目的:HRM法检测中国不同区域肺癌患者的EGFR基因突变,统计突变类型间比率,为临床EGFR-TKI分子靶向治疗提供依据,并验证HRM法的临床适用性。方法:收集2010年手术切除的肺癌石蜡标本253例,HRM法检测EGFR基因突变情况,并用基因测序法进行验证。结果:在253例肺癌标本中,HRM法检测出EGFR基因突变率为42%,与基因测序法检测出的突变率40%无显著性差异,并检测出2例T790M突变,11例多点突变和2例E18新位点突变。将本实验中收集的东部地区和非东部地区肺癌患者的EGFR基因突变率相比较,无显著性差异。经实验验证,HRM法的灵敏度高于基因测序的灵敏度,且HRM法的特异性为100%。结论:HRM技术具有高灵敏度、高特异性和高准确率等特点,且比基因测序法更简单方便,成本更低,适合在临床开展。明确EGFR突变类型十分必要,可以为临床可否运用EGFR-TKI分子靶向治疗提供重要依据。本实验中收集的肺癌标本EGFR基因突变不存在地域差异。

Objective：To research EGFR-TKI molecular target therapy by detecting lung cancer EGFR gene mutant with high resolution melting method in different areas of China,and analyze the ratio of mutations type.Methods： To detect gene mutation of EGFR with HRM method in 253 surgical resection paraffin specimens of lung cancer and verify with gene sequencing method.Results： Mutation rate of EGFR gene was 42% in 253 cases with lung cance specimen using HRM method,while the mutation rate was 40% using sequencing method.There was no significant difference between two methods.At the same time,2 cases of T790M mutations,11 cases of multi-point mutations and 2 cases E18 new sites mutations were found using HRM method,there was no significant difference between the rates of the eastern region and the non-eastern region of patients with lung cancer EGFR mutation.The sensitivity of HRM was higher than gene sequencing method,and the specificity of HRM method was 100%.Conclusion： HRM technology has the characteristics of high sensitivity,high accuracy and high specificity.It is simpler and more cost-effective than gene sequencing method.It＇s necessary to specify the mutations types and to use for clinical EGFR-TKI which can provide important basis for molecular target therapy.EGFR gene mutations of the lung specimen which collect by the labs have no regional variations.