Super-ARMS PCR和ddPCR检测晚期肺腺癌患者血浆循环肿瘤DNA EGFR基因T790M突变的临床价值研究  

Super-ARMS PCR and ddPCR in the detection of plasma circulating tumor DNA EGFR gene T790M mutation in patients with advanced lung adenocarcinoma

作　　者：许万星 王琳[1] 郭巧梅[1] 黄霞 娄加陶[1] XU Wanxing;WANG Lin;GUO Qiaomei;HUANG Xia;LOU Jiatao(Department of Clinical Laboratory,Chest Hospital Affiliated to Shanghai Jiaotong University,Shanghai 200030,China)

机构地区：[1]上海交通大学附属胸科医院检验科,上海200030

出　　处：《国际检验医学杂志》2021年第7期828-831,共4页International Journal of Laboratory Medicine

基　　金：上海市胸科医院多学科协同临床研究创新项目(YJXT20190201);上海市胸科医院基础研究院内培育项目(2019YNJCQ01)。

摘　　要：目的探讨超级扩增阻滞突变系统PCR(Super-ARMS PCR)和微滴式数字PCR(ddPCR)检测晚期肺腺癌患者经表皮生长因子受体抑制剂(EGFR-TKI)治疗后血浆循环肿瘤DNA(ctDNA)表皮生长因子受体(EGFR)基因T790M突变情况和应用价值。方法经EGFR-TKI治疗后耐药的124例患者分别应用Super-ARMS PCR法和ddPCR法检测T790M突变情况,比较2种方法检出率,用药时间及突变丰度的相关性。结果2种方法共检出51例T790M突变,诊断结果一致性较好,Kappa=0.756;2种方法阳性符合率为74.00%,阴性符合率98.65%,总符合率88.71%。用药超过12个月的患者采用Super-ARMS PCR法检测T790M突变的检出率高于用药小于12个月的患者(P<0.05)。ddPCR法检测突变丰度为0.01%~68.10%。结论2种方法在晚期肺腺癌患者经EGFR-TKI治疗后T790M突变检测中具有较高的一致性,ddPCR法灵敏度更高且可以提供突变丰度的信息。Objective To investigate the application value of super-amplification refractory mutation system(super-ARMS PCR)and droplet digital PCR(ddPCR)in detecting T790M mutation of epidermal growth factor receptor(EGFR)gene in circulating tumor DNA(ctDNA)of patients with advanced lung adenocarcinoma after treatment with epidermal growth factor receptor inhibitor(EGFR-TKI).Methods A total of 124 patients with drug resistance after EGFR-TKI treatment were used to detect the T790M mutation by Super-ARMS PCR and ddPCR respectively.The detection rate of the two methods,the duration of medication and the correlation of mutation abundance were compared.Results A total of 51 cases of T790M mutation were detected by the two methods.The diagnosis results were consistent,Kappa=0.756;the positive coincidence rate of the two methods was 74.00%,the negative coincidence rate was 98.65%,and the total coincidence rate was 88.71%.The T790M mutation rate detected by the Super-ARMS PCR method in patients with medication for more than one year was higher than that of patients with medication for less than one year(P<0.05).The range of mutation abundance detected by ddPCR method was 0.01%-68.10%.Conclusion The two methods have high consistency in the detection of T790M mutation in patients with advanced lung adenocarcinoma after EGFR-TKI treatment.The ddPCR method is more sensitive and can provide information on mutation abundance.

关 键 词：微滴式数字PCR 超级扩增阻滞突变系统PCR 表皮生长因子受体抑制剂 

分 类 号：R734.2[医药卫生—肿瘤]