非小细胞肺癌患者外周血游离DNA中检测EGFR基因突变  

Detection of EGFR gene mutation in circulating DNA of patients with non-small cell lung cancer

作　　者：张世强[1] 王保庆[2] 王海清[3] 张旭东[1] 

机构地区：[1]徐州医学院第二附属医院放疗三科,江苏徐州221006 [2]徐州医学院第二附属医院肿瘤内科,江苏徐州221006 [3]徐州医学院第二附属医院呼吸内科,江苏徐州221006

出　　处：《国际检验医学杂志》2015年第9期1185-1187,共3页International Journal of Laboratory Medicine

基　　金：徐州市2013年科技计划基金资助项目(XM13B045)

摘　　要：目的检测非小细胞肺癌患者外周血游离DNA中表皮生长因子受体(EGFR)基因19和21外显子的突变情况,并与相应的肿瘤组织检测结果进行比较,探讨非小细胞肺癌患者应用外周血游离DNA检测EGFR突变的临床意义。方法应用实时荧光聚合酶链反应(PCR)技术检测32例非小细胞肺癌患者术后肿瘤组织和术前外周血游离DNA中EGFR基因19和21外显子的突变,所有扩增标本均经基因测序法验证。结果 32份外周血标本中,共检测到13份EGFR基因突变,突变率达40.6%,肿瘤组织中有16份EGFR基因突变,突变率达50.0%,外周血和肿瘤组织EGFR基因同时突变的有13份,两者突变一致性达到81.2%,两者间差异无统计学意义(P>0.05)。结论外周血游离DNA代替肿瘤组织进行EGFR基因突变检测具有可行性,为无法取得肿瘤组织的非小细胞肺癌患者提供一种更快捷、简便的EGFR基因突变检测方法,其检测结果可为临床选择靶向药物治疗提供依据。Objective To detect the mutation in exon 19 and exon 21 of epithelial growth factor receptor（EGFR） gene in circu lating DNA of non-small cell lung cancer patients. And to compare the result with that of tumor tissue, and evaluate the clinical value of EGFR mutation through detectorg circulating DNA in non-small cell lung cancer patients. Methods The expression of EGFR was analyzed by real time PCR in 32 NSCLC tumor tissues and its peripheral blood, The mutations of EGFR gene in exon 19 and exon 21 were proved by gene sequencing method. Results Amorg 32 cases of paired samples,EGFR gene mutation rate of peripheral blood was 40.6 % ,EGFR gene mutation rate of tumor tissue was 50.0% , The consistency of EGFR gene mutations with tumor tissue and peripheral blood reached 81.2%, EGFR gene mutation rate of them had no significant difference （P〈0.05）. Conclusion EGFR gene mutation detection is feasible by using serum circulating DNA. Detection of EGFR gene mutation in plasma may replace that in tumor tissue, providing a quicker and easier examination method for the patients lacking biopsy tissue.

关 键 词：肺肿瘤 表皮生长因子受体 游离脱氧核糖核酸 肿瘤组织 

分 类 号：R734.2[医药卫生—肿瘤]