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

Xi-Wen Jiang1, Wei Liu2, Xiao-Ya Zhu1

  • 1Da An Gene Co., Ltd. of Sun Yat‑sen University, Guangzhou, Guangdong 510665, P.R. China.

Molecular Medicine Reports
|May 23, 2019
PubMed

Insights

New droplet digital PCR (ddPCR) tests offer highly sensitive detection of epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer (NSCLC) plasma cell-free DNA (cfDNA). This minimally invasive approach aids in early diagnosis and personalized targeted drug selection for lung cancer patients.

Area of Science:

  • Molecular Oncology
  • Genetics
  • Biotechnology

Background:

  • Targeted therapies are crucial for non-small cell lung cancer (NSCLC), often guided by epidermal growth factor receptor (EGFR) gene mutations.
  • Plasma cell-free DNA (cfDNA) analysis offers a minimally invasive method for detecting cancer mutations.
  • Droplet digital PCR (ddPCR) is a highly sensitive technique for analyzing cfDNA.

Purpose of the Study:

  • To develop and evaluate four ddPCR systems for detecting key EGFR mutations (19DELs, L858R, T790M, C797S) in NSCLC patient plasma cfDNA.
  • To compare the sensitivity and concordance of ddPCR assays against traditional amplification refractory mutation system (ARMS)-PCR.

Main Methods:

  • Development of four specific ddPCR assays targeting EGFR mutations: 19DELs, L858R, T790M, and C797S.
  • Analysis of 50 NSCLC plasma cfDNA samples using both the developed ddPCR systems and ARMS-PCR.
  • Assessment of assay sensitivity, reaching as low as 0.04% for EGFR mutations, and calculation of concordance rates.

Main Results:

  • The ddPCR assays demonstrated significantly higher sensitivity compared to ARMS-PCR.
  • Concordance rates between ddPCR and ARMS-PCR were high: 96% for 19DELs, 98% for L858R, and 100% for T790M.
  • The fraction of EGFR mutations detected by ddPCR ranged from 0.43% to 68.07%.

Conclusions:

  • The developed ddPCR testing systems are highly sensitive and suitable for early detection of major EGFR mutations in plasma cfDNA.
  • These ddPCR assays provide a reliable, minimally invasive tool for NSCLC patient management.
  • Enables timely selection of appropriate targeted therapies based on precise EGFR mutation status.

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