癌症患者血浆循环肿瘤脱氧核糖核酸与肿瘤组织突变检测的一致性及其与预后的关系

Wei Li, Hefei Li, Q. Gong, Duo Zhang, Yan Nan
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摘要

目的探讨血浆循环肿瘤脱氧核糖核酸(ctDNA)和肿瘤组织样本在癌症(NSCLC)突变检测中的一致性及其与预后的关系。方法选取2017年3月至2018年6月在我院就诊的50例非小细胞肺癌患者,提取血浆ctDNA和肿瘤组织DNA,采用扩增难治性突变系统(ARMS)法检测表皮生长因子受体(EGFR)基因突变,并分析两种方法的一致性。然后分析血浆ctDNA检测EGFR基因突变与无进展生存期(PFS)的相关性。结果女性和非吸烟患者血浆ctDNA检测EGFR基因突变率显著高于男性和吸烟患者(P<0.05),血浆ctDNA对EGFR基因检测的特异性、敏感性、阳性预测值和阴性预测值分别为100.00%、58.82%、53.33%和100.00%。ctDNA与肿瘤组织检测EGFR基因突变的一致性良好(P<0.05)。血浆ctDNA和肿瘤组织显示EGFR突变患者的PFS明显长于野生型患者(P<0.01),血浆ctDNA对化疗患者的预后具有一定的预测价值,可作为临床检测EGFR基因突变和预后评估的实验室方法。关键词:非小细胞肺癌;循环肿瘤脱氧核糖核酸;表皮生长因子受体基因;基因突变;预后
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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
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. Key words: Non-small cell lung cancer; Circulating tumor deoxyribonucleic acid; Epidermal growth factor receptor gene; Gene mutation; Prognosis
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