Evaluation of EGFR mutations in NSCLC with highly sensitive droplet digital PCR assays

Jiang,Xi‑Wen; Liu,Wei; Zhu,Xiao‑Ya; Xu,Xiao‑Xie

doi:10.3892/mmr.2019.10259

Evaluation of EGFR mutations in NSCLC with highly sensitive droplet digital PCR assays

Authors:
- Xi‑Wen Jiang
- Wei Liu
- Xiao‑Ya Zhu
- Xiao‑Xie Xu
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Affiliations: Da An Gene Co., Ltd. of Sun Yat‑sen University, Guangzhou, Guangdong 510665, P.R. China, Lu He Hospital Capital Medical University Beijing China, Beijing 100069, P.R. China
Published online on: May 21, 2019 https://doi.org/10.3892/mmr.2019.10259
Pages: 593-603
Copyright: © Jiang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Targeted drugs have been widely used in the treatment of patients with lung cancer, particularly for those with non‑small cell lung cancer (NSCLC). Plasma cell‑free DNA is an emerging clinical tool for the detection of epidermal growth factor receptor (EGFR) gene mutation in patients with lung cancer. Detection of circulating tumor (ct) DNA by droplet digital PCR (ddPCR) is a highly sensitive and minimally invasive alternative for the assessment and management of cancer. In the present study, four ddPCR systems were developed to detect the 19DELs, L858R, T790M and C797S mutations of the EGFR gene in plasma ctDNA samples, and all exhibited higher sensitivity compared with the amplification refractory mutation system (ARMS)‑PCR assays. The results revealed that the sensitivity of the ddPCR assays for the four major types of EGFR mutant reached 0.04%. In total, 50 plasma ctDNA samples were collected from patients with NSCLC to detect the 19DELs, L858R, T790M and C797S mutations by ddPCR and ARMS‑PCR. All the mutations except for C797S were detected and the concordance rates between ddPCR and ARMS‑PCR were 96% (19DELs), 98% (L858R) and 100% (T790M). The fraction of EGFR mutation ranged from 0.43 to 68.07% using the ddPCR method. Therefore, the present study suggests that the four ddPCR testing systems could be used for early detection of EGFR mutations in plasma samples, so that patients can better select the targeted drugs according to the EGFR mutation.

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