微滴数字PCR技术动态监测非小细胞肺癌患者血浆游离DNA EGFR基因突变研究  

Dynamic Monitoring of Plasma Free DNA EGFR Gene Mutation in Patients with Non-small Cell Lung Cancer by Micro-drop Digital PCR

作　　者：郑晓彬[1] 庄武[1] 黄韵坚[1] 林根[1] 吴标[1] 蒋侃[1] 林金兰 黄章洲[1] ZHENG Xiaobin;ZHUANG Wu;HUANG Yunjian;LIN Gen;WU Biao;Jiang Kan;LIN Jinlan;HUANG Zhangzhou(Fujian Provincial Cancer Hospital Affiliated to Fujian Medical University,Fuzhou 350014,China)

机构地区：[1]福建医科大学附属福建省肿瘤医院

出　　处：《中外医学研究》2020年第3期66-68,共3页CHINESE AND FOREIGN MEDICAL RESEARCH

基　　金：福建省卫生计生委青年课题项目(项目编号：2017-2-7)

摘　　要：目的:探讨微滴数字PCR技术(ddPCR)动态监测非小细胞肺癌(NSCLC)患者血浆游离DNA表皮生长因子受体(EGFR)基因突变的临床价值。方法:选取2017年3月-2019年3月就诊于笔者所在医院的120例NSCLC患者,均行突变扩增系统(ARMS)、ddPCR检测血浆EGFR标本。以肿瘤组织ARMS检查结果为金标准,分析血浆ARMS、ddPCR检测EGFR基因突变的敏感性和特异性。结果:120例患者经ARMS检测到肿瘤组织标本中EGFR基因突变阴性59例(49.17%);EGFR基因突变阳性61例(50.83%),其中Exon20 T790M突变2例,含Exon19del突变32例,含Exon21L858R突变26例,合并Exon20T790M突变1例;血浆ARMS、ddPCR检测EGFR基因和含Exon19del、Exon21L858R基因突变的特异性均为100%,检测EGFR基因和含Exon19del、Exon21L858R基因突变敏感性分别为57.38%(35/61)、80.33%(49/61),62.50%(20/32)、84.38%(27/32),46.15%(12/26)、76.92%(20/26),差异有统计学意义(P<0.05)。结论:dd PCR动态监测NSCLC患者血浆EGFR基因突变的敏感性与特异性较高,并能够定性EGFR基因突变类型,能为临床治疗提供指导。Objective:To investigate the clinical value of micro-drop digital PCR(ddPCR) in the dynamic monitoring of plasma free DNA epidermal growth factor receptor(EGFR) gene mutation in patients with non-small cell lung cancer(NSCLC).Method:A total of 120 patients with NSCLC who were admitted to our hospital from March 2017 to March 2019 were enrolled in the study.All patients underwent mutation amplification system(ARMS) and ddPCR to detect plasma EGFR samples.The sensitivity and specificity of EGFR gene mutation were detected by plasma ARMS and ddPCR using the results of AMS examination of tumor tissue as the gold standard.Result:A total of 59 patients(49.17%) with negative EGFR gene mutations were detected by ARMS in the 120 patients.61 cases were positive for EGFR gene mutation(50.83%),including 2 cases of Exon20 T790 M mutation,including 32 cases of Exon19 del mutation,including Exon21 L858 R mutation 26 cases,1 case of Exon20 T790 M mutation was combined.The specificity of EGFR gene and Exon19 del and Exon21 L858 R gene mutations in plasma ARMS and ddPCR were 100%,and the mutation sensitivity of EGFR gene and Exon19 del and Exon21 L858 R gene were 57.38%(35/61),80.33%(49/61),62.50%(20/32),84.38%(27/32),46.15%(12/26),76.92%(20/26) respectively,the difference was statistically significant(P<0.05).Conclusion:The ddPCR can dynamically monitor the sensitivity and specificity of plasma EGFR gene mutation in patients with NSCLC,and can identify the type of EGFR gene mutation,which can provide guidance for clinical treatment.

关 键 词：非小细胞肺癌 游离DNA表皮生长因子受体 微滴数字PCR技术 

分 类 号：R734.2[医药卫生—肿瘤]