小体积核酸样本检测晚期非小细胞肺癌患者外周血表皮生长因子受体突变的可行性及应用

Feasibility and application of small volume nucleic acid sample to detect the EGFR mutation in peripheral blood from patients with advanced non-small cell lung cancer

目的评价一种操作便捷,小体积核酸样本即可满足外周血表皮生长因子受体(EGFR)突变检测的方法。方法采用新型ctDNA检测试剂盒,对94例临床小体积核酸样品(样本使用量为临床样本量的1/9)进行检测分析;另外随机选取46例临床检测(ARMS法)EGFR突变为阳性的样本,取剩余的临床核酸样本进行验证,进而研究该检测试剂盒结果与ARMS检测结果的一致性;对于不一致的结果采用SuperARMS法进行验证。结果与ARMS法检测结果相比较,小样本量检测的94例样本符合率为93.6%(88/94),阳性符合率82.1%(23/28),阴性符合率为98.7%(65/66);46例EGFR突变阳性的样本中,两种检测方法符合率为97.8%。结论新型ctDNA检测试剂盒与ARMS法有较高一致性,该结果提示,在样本量较少的情况下,新型ctDNA检测EGFR突变具有潜在可行性。

Objective To evaluate a convenient method for detecting EGFR mutations with small volume of nucleic acid samples.Methods A new ctDNA(circulate tumor DNA)detection kit was used to detect and analyze the remaining clinical samples with a total of 94 samples,and the sample amount was 1/9 of the clinical sample size.In addition,46 samples with positive EGFR mutation in clinical detection(ARMS method)were randomly selected,and the remaining clinical samples were taken for DNA co-locus detection,so as to study the consistency between the detection results and the clinical results.The inconsistent results were verified by SuperARMS method.Results Compared with the results of ARMS test,the total coincidence rate was 93.6%(88/94),the positive coincidence rate was 82.1%(23/28)and the negative coincidence rate was 98.7%(65/66).In 46 EGFR mutation positive samples,the coincidence rate of the two methods was 97.8%.Conclusions The new ctDNA detection kit has a high consistency with ARMS method,which suggests that the new ctDNAdetection for EGFR mutations is potentially feasible in the case of a small sample size.