Li R, Ye S B, He Y, Wang X, Wu N, Xia Q Y, Shen Q, Shi S S
Department of Pathology, Nanjing Jinling Hospital, Nanjing 210002, China.
Zhonghua Bing Li Xue Za Zhi. 2017 Nov 8;46(11):764-768. doi: 10.3760/cma.j.issn.0529-5807.2017.11.006.
To compare amplification refractory mutation system(ARMS) and droplet digital PCR (ddPCR) in the detection of epidermal growth factor receptor (EGFR) gene mutations in patients with non-small cell lung cancer (NSCLC), and to investigate the clinical value of ddPCR. A total of 79 specimens of NSCLC, including 22 cases of cell block, 18 cases of surgical specimens, 12 cases of biopsy specimens and 27 cases of plasma samples, were analyzed for the mutation status of EGFR gene by ARMS and droplet digital PCR method. In 18 cases of surgical specimens and 12 cases of biopsy specimens, the detection results by the two methods were identical with positive rates of 9/18 and 5/12, respectively. In 22 cases of effusion cell blocks, ARMS detected 19-del and L858R of EGFR gene in two cases, in which droplet digital PCR detected 19-del+ T790M mutations in one case and L858R+ T790M mutation in another. L858R mutation was detected by droplet digital PCR in one case but ARMS assay was negative. The remaining 19 cases were consistent by the two methods. In blood samples, the positive rate was 33.3%(9/27) by ARMS and 37.0%(10/27) by droplet digital PCR. Two cases showed L858R and 19-del+ T790M mutation by droplet digital PCR but ARMS assay detected only 19-del. The remaining 25 cases were consistent by the two methods. Droplet digital PCR method is more sensitive and accurate than ARMS for the detection of EGFR mutations in pleural fluid and blood samples, can be used in clinical test.
比较扩增阻滞突变系统（ARMS）和液滴数字PCR（ddPCR）在检测非小细胞肺癌（NSCLC）患者表皮生长因子受体（EGFR）基因突变中的应用，并探讨ddPCR的临床价值。共收集79例NSCLC标本，包括22例细胞块、18例手术标本、12例活检标本和27例血浆样本，采用ARMS和液滴数字PCR方法分析EGFR基因的突变状态。在18例手术标本和12例活检标本中，两种方法的检测结果一致，阳性率分别为9/18和5/12。在22例积液细胞块中，ARMS检测到2例EGFR基因的19-del和L858R突变，其中液滴数字PCR检测到1例19-del+T790M突变和另1例L858R+T790M突变。液滴数字PCR检测到1例L858R突变，但ARMS检测为阴性。其余19例两种方法检测结果一致。在血液样本中，ARMS检测的阳性率为33.3%（9/27），液滴数字PCR检测的阳性率为37.0%（10/27）。2例经液滴数字PCR检测显示L858R和19-del+T790M突变，但ARMS检测仅检测到19-del。其余25例两种方法检测结果一致。液滴数字PCR法在检测胸水和血液样本中的EGFR突变方面比ARMS更敏感、准确，可用于临床检测。
