非小细胞肺癌患者血浆循环肿瘤脱氧核糖核酸与肿瘤组织标本突变一致性对比及其临床意义

Consistency of plasma circulating tumor deoxyribonucleic acid and tumor tissue samples in the mutation detection in non-small cell lung cancer patients and its relationship with prognosis

目的探讨非小细胞肺癌(NSCLC)患者血浆循环肿瘤脱氧核糖核酸(ctDNA)与肿瘤组织标本突变一致性对比及其与预后关系.方法选择河北大学附属医院胸外科收治的50例NSCLC患者作为研究对象.抽取患者肘部静脉血,通过活检术获取肿瘤组织,提取血浆ctDNA及肿瘤组织DNA,利用突变特异性扩增系统(ARMS)法检测表皮生长因子受体(EGFR)基因突变,对两种方法检测结果进行一致性分析,对血浆ctDNA检测的EGFR基因突变与患者无进展生存期(PFS)进行相关分析.结果血浆ctDNA检测中女性及无吸烟史患者EGFR基因突变率明显高于男性及有吸烟史患者(P<0.05);血浆中ctDNA检测EGFR基因突变的特异度为100.00%,敏感度为58.82%,阳性预测值为53.33%,阴性预测值为100.00%;血浆中ctDNA与肿瘤组织检测EGFR基因突变的一致性较好(P<0.05);血浆中ctDNA与肿瘤组织均显示EGFR基因突变型患者PFS明显长于野生型(P<0.05).结论NSCLC患者血浆中ctDNA与肿瘤组织标本在检测EGFR基因突变一致性较好,同时血浆中ctDNA对患者化疗预后具有一定预测价值.

Objective To investigate the consistency of plasma plasma circulating tumor deoxyribonucleic acid(ctDNA)and tumor tissue samples in the mutation detection in non-small cell lung cancer(NSCLC)patients and its relationship with prognosis.Methods 50 NSCLC patients in our hospital from March 2017 to June 2018 were selected,plasma ctDNA and tumor tissue DNA were extracted,and the mutations of epidermal growth factor receptor(EGFR)gene were detected by amplification refractory mutation system(ARMS)method,and the consistency of the two methods was analyzed.Then the correlation between EGFR gene mutation detected by plasma ctDNA and progression-free survival(PFS)was analyzed.Results The mutation rate of EGFR gene detected by plasma ctDNA in female and non-smoking patients was significantly higher than that in male and smoking patients(P<0.05).The specificity,sensitivity,positive predictive value and negative predictive value of detection of EGFR gene mutation by ctDNA in plasma were 100.00%,58.82%,53.33%and 100.00%,respectively.The consistency of ctDNA and tumor tissue in the detection of EGFR gene mutation was good(P<0.05).The plasma ctDNA and tumor tissues showed that the PFS of EGFR mutant patients was significantly longer than that of wild type patients(P<0.05).Conclusion Plasma ctDNA and tumor tissue samples of NSCLC patients have a good consistency in detecting EGFR gene mutation,and plasma ctDNA has a certain predictive value for the prognosis of patients undergoing chemotherapy,which can be used as a laboratory method for clinical detection of EGFR gene mutation and prognosis assessment.