Performance of Super ARMS to Detect EGFR Mutation Status in Plasma Cell-free DNA in Advanced Non-Small Cell Lung Cancer Patients

Abstract

Backgroud: EGFR mutation play essential role in the treatment of NSCLC patients using EGFR TKIs. Detection of EGFR mutations in cfDNA seems promising. A lot of methods have been developed. However, these methods are not always consistent with that in the tissues and the sensitivity is not high enough. We developed a new technique called Super Amplification Refractory Mutation System for detecting EGFR mutation status in plasma cfDNA. Objectives: To evaluate the performance of Super ARMS to detect EGFR mutation status in plasma cfDNA in NSCLC patients. Methods: The present prospective study enrolled advanced NSCLC patients in the first affiliated hospital of Wenzhou Medical University from 1 August 2016 to 1 January 2017. EGFR mutation detection in tissue by ARMS and in plasma cfDNA by Super ARMS were all tested. We compared the mutation in tumor tissue samples with matched plasma samples and evaluate the performance of Super ARMS for detection of EGFR mutation status in plasma cfDNA. Results: Of the 109 patients enrolled, mutation were discovered in 57.8%(63/109) of the tumor tissues and the same mutation in 46.8%(51/109)of the matched plasma. The overall rate of consistency of the EGFR mutation statuses was 89.0%(97/109). The sensitivity and specificity of detecting EGFR mutations in the plasma by Super ARMS were 81.0%(51/63)and 100%(46/46)respectively. The sensitivity and specificity of detecting EGFR exon 19 deletion in the plasma were 79.4%(27/34) and 100%(75/75), consistent with 81.5%(22/27) and 100%(82/82) of L858R. Conclusions: Super ARMS appears to be a promising and reliable approach to detect EGFR mutation in plasma cfDNA for advanced NSCLC patients.