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微滴数字PCR和Super-ARMS检测晚期肺腺癌患者血浆循环肿瘤DNA表皮生长因子受体基因突变的临床价值研究
微滴数字PCR和Super-ARMS检测晚期肺腺癌患者血浆循环肿瘤DNA表皮生长因子受体基因突变的临床价值研究
by 王静 , 曹喆 , 张卉 , 舒诚荣 , 马丽 , 吕嘉林 , 张权 , 张树才 , 龙洪清 , 李曦 , 李琨 , 王敬慧 , 杨新杰 , 秦娜
2020
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微滴数字PCR和Super-ARMS检测晚期肺腺癌患者血浆循环肿瘤DNA表皮生长因子受体基因突变的临床价值研究
by 王静 , 曹喆 , 张卉 , 舒诚荣 , 马丽 , 吕嘉林 , 张权 , 张树才 , 龙洪清 , 李曦 , 李琨 , 王敬慧 , 杨新杰 , 秦娜
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2020
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微滴数字PCR和Super-ARMS检测晚期肺腺癌患者血浆循环肿瘤DNA表皮生长因子受体基因突变的临床价值研究
微滴数字PCR和Super-ARMS检测晚期肺腺癌患者血浆循环肿瘤DNA表皮生长因子受体基因突变的临床价值研究
by 王静 , 曹喆 , 张卉 , 舒诚荣 , 马丽 , 吕嘉林 , 张权 , 张树才 , 龙洪清 , 李曦 , 李琨 , 王敬慧 , 杨新杰 , 秦娜
2020

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微滴数字PCR和Super-ARMS检测晚期肺腺癌患者血浆循环肿瘤DNA表皮生长因子受体基因突变的临床价值研究
微滴数字PCR和Super-ARMS检测晚期肺腺癌患者血浆循环肿瘤DNA表皮生长因子受体基因突变的临床价值研究
Journal Article

微滴数字PCR和Super-ARMS检测晚期肺腺癌患者血浆循环肿瘤DNA表皮生长因子受体基因突变的临床价值研究

王静,
曹喆,
张卉,
舒诚荣,
马丽,
吕嘉林,
张权,
张树才,
龙洪清,
李曦,
李琨,
王敬慧,
杨新杰,
秦娜
2020
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Overview
背景与目的晚期肺腺癌患者在选择靶向药物时需以肿瘤表皮生长因子受体(epidermal growth factor receptor, EGFR)基因突变类型作为依据,然而晚期肺腺癌肿瘤组织取材较难,有专家共识指出外周血可替代肿瘤组织作为检测标本.本文旨在探讨微滴数字聚合酶链反应法(droplet digital polymerase chain reaction,ddPCR)和超级扩增阻滞突变系统(super-amplification refractory mutation system, super-ARMS)这两种方法检测晚期肺腺癌患者外周血中血浆循环肿瘤脱氧核糖核酸(circulating tumor DNA, ctDNA)中EGFR基因突变的临床价值.方法 收集2016年2月-2019年2月首都医科大学附属北京胸科医院确诊的初治晚期肺腺癌共119例纳入研究,比较ddPCR和Super-ARMS技术检测血浆ctDNA EGFR基因突变的敏感度、特异度.部分EGFR因经典突变阳性患者接受一线EGFR酪氨酸激酶抑制剂(EGFR tyrosine kinase inhibitors,EGFR-TKI)口服治疗,将患者按检测结果分亚组,组1为ddPCR及Super-ARMS检测EGFR基因突变结果均为阳性,21例.组2为ddPCR及Super-ARMS检测EGFR基因突变结果均为阴性,16例.组3为ddPCR检测结果为阳性而Super-ARMS检测结果为阴性,5例.组4为ddPCR检测结果为阴性而Super-ARMS检测结果阳性,因组4患者个数为0,不纳入统计.以客观缓解率(objective response rate, ORR)及疾病控制率(disease control rate, DCR)评估近期疗效,并用生存分析比较组间无进展生存时间(progression-free survivl,PFS)以评估远期疗效.结果 119例晚期肺腺癌组织样本中,共检测到58例(48.7％) EGFR基因突变.ddPCR技术检测与肿瘤组织EGFR基因突变结果的符合率为82.4％(Kappa=0.647, P＜0.001),灵敏度为74.1％,特异度为90.2％.而Super-ARMS检测与组织检测的符合度为71.4％,灵敏度仅为58.6％,特异度为83.6％.组3的ORR与DCR值低于组1、2,但组间ORR相比均无统计学意
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湖北科技学院临床医学院肿瘤和核医学教研室/湖北科技学院附属第一医院肿瘤中心,咸宁,437100%厦门市中医院医疗美容科,厦门,361101%101149北京,首都医科大学附属北京胸科医院,北京市结核病胸部肿瘤研究所肿瘤内科%101149北京,首都医科大学附属北京胸科医院,北京市结核病胸部肿瘤研究所病理科

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