Plasma EGFR Mutation Detection Associated With Survival Outcomes in Advanced-Stage Lung Cancer

Clin Lung Cancer. 2015 Nov;16(6):507-13. doi: 10.1016/j.cllc.2015.06.003. Epub 2015 Jun 24.


We confirmed the performance of an array method for plasma epidermal growth factor receptor (EGFR) mutation detection and showed the association of plasma EGFR mutation with survival outcomes.

Background: Noninvasive detection of epidermal growth factor receptor (EGFR) mutation in plasma is feasible and could be adjunct for therapeutic monitoring especially when repeated biopsy of tumor tissue is challenging. The aims of this study were to establish the diagnostic performance of peptide nucleic acid-locked nucleic acid polymerase chain reaction followed by custom array for plasma EGFR mutation and to evaluate the association of detection with clinical characteristics and survival outcomes.

Materials and methods: Plasma genomic DNA from consecutive advanced lung cancer subjects was tested for EGFR mutations before anticancer treatment, and compared with mutation status in tumor tissue. Clinical characteristics were compared between patients who were EGFR-mutant and wild type; and within EGFR mutants, whether EGFR mutations could be detected in plasma.

Results: In 74 lung cancer patients, the sensitivity, specificity, and positive and negative predictive values of plasma EGFR detection were 79.1%, 96.8%, 97.1%, and 76.9%, respectively. EGFR mutants with concomitant detection of plasma EGFR mutation showed worse survival compared with mutants with no concomitant plasma mutation detected in biopsy specimens.

Conclusion: Plasma EGFR mutation detected using this method demonstrated high diagnostic performance. In EGFR mutants, plasma EGFR mutation detection correlated not only EGFR mutation status in biopsy but was also associated with worse prognosis compared with EGFR mutant without plasma EGFR mutation detection.

Keywords: EGFR mutation; Lung adenocarcinoma; Plasma DNA; Prognosis; Survival outcomes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / diagnosis*
  • Adenocarcinoma / mortality
  • Aged
  • DNA Mutational Analysis / methods
  • ErbB Receptors / blood
  • ErbB Receptors / genetics*
  • Female
  • Humans
  • Lung Neoplasms / diagnosis*
  • Lung Neoplasms / mortality
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Neoplasm Staging
  • Predictive Value of Tests
  • Prognosis
  • Sensitivity and Specificity
  • Survival Analysis


  • EGFR protein, human
  • ErbB Receptors