title: Plasma EGFR Mutation Detection Associated With Survival Outcomes in Advanced-Stage Lung Cancer.
abstract: 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Medicine, University of Hong Kong, Hong Kong SAR, China. Electronic address: dcllam@hku.hk.
authors.forename: David C L
authors.initials: DC
authors.lastname: Lam
authors.affiliation: Department of Medicine, University of Hong Kong, Hong Kong SAR, China.
authors.forename: Terence C C
authors.initials: TC
authors.lastname: Tam
authors.affiliation: Department of Medicine, University of Hong Kong, Hong Kong SAR, China.
authors.forename: Kenneth M K
authors.initials: KM
authors.lastname: Lau
authors.affiliation: Department of Medicine, University of Hong Kong, Hong Kong SAR, China.
authors.forename: Wai-Mui
authors.initials: WM
authors.lastname: Wong
authors.affiliation: Department of Medicine, University of Hong Kong, Hong Kong SAR, China.
authors.forename: Christopher K M
authors.initials: CK
authors.lastname: Hui
authors.affiliation: Department of Medicine, University of Hong Kong, Hong Kong SAR, China.
authors.forename: Jamie C M
authors.initials: JC
authors.lastname: Lam
authors.affiliation: Department of Medicine, University of Hong Kong, Hong Kong SAR, China.
authors.forename: Julie K L
authors.initials: JK
authors.lastname: Wang
authors.affiliation: Department of Medicine, University of Hong Kong, Hong Kong SAR, China.
authors.forename: Macy M S
authors.initials: MM
authors.lastname: Lui
authors.affiliation: Department of Medicine, University of Hong Kong, Hong Kong SAR, China.
authors.forename: James C M
authors.initials: JC
authors.lastname: Ho
authors.affiliation: Department of Medicine, University of Hong Kong, Hong Kong SAR, China.
authors.forename: Mary S M
authors.initials: MS
authors.lastname: Ip
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis* / Q000401:mortality; D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D066246:ErbB Receptors / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009367:Neoplasm Staging; D011237:Predictive Value of Tests; D011379:Prognosis; D012680:Sensitivity and Specificity; D016019:Survival Analysis
chemical_list: C512478:EGFR protein, human; D066246:ErbB Receptors
keywords: EGFR mutation; Lung adenocarcinoma; Plasma DNA; Prognosis; Survival outcomes