数字PCR法和探针扩增阻滞突变法检测非小细胞肺癌组织表皮生长因子受体突变的比较研究

A comparative study on detecting epidermal growth factor receptor mutation in nonsmall-cell lung cancer tissue by digital PCR and amplification refractory mutation system

目的比较数字PCR法和ARMS法检测非小细胞肺癌组织EGFR基因突变的差异,验证数字PCR法的检测性能。方法以ARMS法作为对照参考方法,对36例EGFR突变阳性的NSCLC标本,采用数字PCR法进行EGFR基因突变检测,对结果进行比较研究。结果 ARMS法显示的22例21外显子突变阳性标本中,数字PCR检测全为阳性;ARMS法显示的14例19外显子突变阳性标本中,数字PCR共检出13例19外显子突变阳性。且数字PCR法可以定量检测EGFR突变比率,与临床分期具有相关性。结论数字PCR法与ARMS法的检测一致性较高,可以直接实现绝对定量,对指导患者的个体化治疗具有重要价值。

Objective To compare the utility of digital PCR and amplification refractory mutation system（ARMS） in the detec- tion of epidermal growth factor receptor（EGFR） mutations in nonsmall - cell lung cancer（NSCLC） , so as to investigate the per- formance of digital PCR. Methods ARMS was selected as the reference method. EGFR gene mutation test was conducted by digital PCR in 36 NSCLC samples with EGFR mutations. The mutation of EGFR gene was detected by digital PCR, and the re- sults were compared. Results The 22 samples with EGFR exon 21 mutations detected via ARMS were all positive via digital PCR. Among 14 samples with EGFR exon 19 mutations detected via ARMS, the same mutations were detected in 13 samples via digital PCR. And digital PCR can quantitatively detect the rate of EGFR mutation, which is associated with clinical staging. Conclusion The consistency between digital PCR and ARMS is good, and digital PCR can realize absolute quantification, which has great value to provide individualized treatment for patients.