竞争性等位基因特异性荧光探针聚合酶链法检测肺腺癌组织EGFR基因突变  

Detection of epidermal growth factor receptor mutations in lung adenocarcinoma tissues by the method of competitive allele-specific TaqMan~ PCR

作　　者：孟谊 禹立霞[2] 杨杨[2] 王立峰[2] 

机构地区：[1]中国人民解放军第八一医院,江苏南京210008 [2]南京大学附属鼓楼医院肿瘤中心,江苏南京210008

出　　处：《现代肿瘤医学》2016年第10期1518-1522,共5页Journal of Modern Oncology

基　　金：江苏省卫生科研项目(编号:H201235);南京市医学重点科技发展项目(编号:2KX12012)

摘　　要：目的:探讨竞争性等位基因特异性荧光探针聚合酶链(cast PCR)法检测初治肺腺癌组织表皮生长因子受体(EGFR)基因突变的应用价值,及EGFR突变状态与患者临床生物学行为的相关性。方法:收集2010年10月至2014年12月南京鼓楼医院103例初治肺腺癌组织标本及患者的临床病理资料。使用cast PCR法检测EGFR基因突变(外显子19 del 2235-2249和del 2236-2250、外显子20 T790M、外显子21 L858R)。结果:103例肺腺癌患者肿瘤组织中共有54例检出了存在至少一个位点的EGFR基因突变(突变率52.43%),其中敏感突变(外显子19和/或外显子21)45人(43.69%),外显子20突变11人(10.68%)。同时发现部分患者存在敏感突变与敏感突变、敏感突变与耐药突变共存的现象,其中外显子19和20共突变2人,外显子19和21共突变4人,外显子20和21共突变1人。结论:通过对103例肺腺癌患者肿瘤组织EGFR基因突变状态的检测,初步论证了cast PCR法在肺癌EGFR驱动突变检测方面的临床可行性。Objective：To explore the value of detecting mutations on epidermal growth factor receptor （EGFR） gene in treatment - naive adenocarcinoma tissue by competitive allele - specific TaqMan PCR （castPCR）. And we also investigated the correlation between EGFR mutation status and their clinical characteristics. Methods：We col- lected 103 lung adenocarcinoma patients＂ clinical pathologic data, formalin -fixed paraffin -embedded （FFPE） tis- sues in The Affiliated Drum Tower Hospital of Medical School of Nanjing University from November 2010 to December 2014. The castPCR method was employed to detect the EGFR mutation statues （ exon 19,2235 - 2249 and 2236 - 2249,exon 20 T790M,exon 21 L858R） of 103 treatment - naive FFPE tissue samples. Results：Of 103 lung adeno carcinoma patients 54 were detected with at least one site of EGFR mutations （ mutation rate 52.43% ）. There were 45 （43.69%） patients caruing sensitive mutation （exon 19 and/or exon 21 ） and 11 people （ 10.68% ） carrying exon 20 mutation. Some patients harbored complex mutations ：2 carried exon 19 and 20 mutations ,4 carried exon 19 and 21 mutations, and 1 carried exon 20 and 21 mutation. Conclusion： We have demonstrated the clinical feasibility of utilizing the castPCR method to detect the EGFR mutation statues from lung cancer tissue.

关 键 词：肺癌 个体化治疗 体细胞突变 EGFR基因 castPCR 

分 类 号：R734.2[医药卫生—肿瘤]