Evaluation of the performance of EGFR mutations detection in advanced NSCLC patientswith droplet digital PCR
会议名称：《2017年中国肿瘤标志物学术大会暨第十一届肿瘤标志物青年科学家论坛》
会议日期：2017年
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
关 键 词：droplet digital PCR EGFR non-small cell lung cancer ctDNA
摘 要：Objective:To investigate the feasibility of droplet digital PCR(ddPCR) for the detection of 3 EGFR mutations(exon 19 deletions, L858 R in exon 21, and T790 M in exon 20)from plasma ctDNAin advancednon-small cell lung cancer( NSCLC) patients. The accuracyofddPCR wasevaluated bycomparing with 2 different ***: The sensitivity, specificity,accuracy of the established ddPCR system were assessed using purified EGFR mutation-positive cell DNA and reference standard genome *** performance of our ddPCR systemfor detecting EGFR mutations in plasma ctDNA was compared by paralleltestingwith other 2 different platforms(ARMS and NGS). Finally,ourddPCR system was used to detect the plasma EFGR mutations in targeted treatment-na?ve NSCLC patients and those who previously undergoneEGFR-TKI therapy. Results: Our establishedddPCR system showed 100% specifityandhigh concordance for EGFR mutation detection. The assay sensitivity of ddPCR was 0.1% for EGFR 19 deletions and L858 R,whereas 0.5% for T790 *** testing 64 plasma cfDNA,bothNGS and ddPCR displayed superior sensitivity than ARMS(P0.01).Of 159 patients advanced NSCLC with molecular pathology results, 78 cases were EGFR-TKI treatment-naive and the other 81 wereundergone bloodrebiopsy after acquired *** ddPCR also exhibit a good concordance inclinical ***: We therefore developed ahighly sensitive and specific droplet digital PCR method for plasma EGFR mutation(exon19 deletions, L858 R andT790 M) testing.