Assessment of high-sensitive methods for the detection of EGFR mutations in circulating free tumor DNA from NSCLC patients

Pharmacogenomics. 2015;16(10):1135-48. doi: 10.2217/pgs.15.45. Epub 2015 Aug 7.

Abstract

Aim: We assessed the ability of the Therascreen(®) kit (plasma-Therascreen) and of a peptide nucleic acids (PNA)-clamp approach to detect EGFR mutations in plasma-derived circulating-free tumor DNA (cftDNA) from non-small-cell lung cancer patients.

Materials & methods: cftDNA from 96 patients was analyzed for exon 19 deletions and the p.L858R mutation, using both plasma-Therascreen and PNA-clamp-based assays.

Results: None of the 70 EGFR wild-type patients showed EGFR mutations in cftDNA with both techniques (specificity: 100%). In 17/26 EGFR-mutant patients, plasma-Therascreen analysis confirmed the mutation identified in the primary tumor (analytical sensitivity: 65.4%). Similar results were obtained with the PNA-clamp method.

Conclusion: Both approaches were specific and sensitive for EGFR mutational analysis of cftDNA in non-small-cell lung cancer patients.

Keywords: EGFR mutations; PNA-clamp; Therascreen®; cftDNA; liquid biopsy; non-small-cell lung carcinoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Carcinoma, Non-Small-Cell Lung / genetics*
  • Cell Line, Tumor
  • DNA Mutational Analysis / methods
  • DNA, Neoplasm
  • ErbB Receptors / genetics*
  • Exons / genetics
  • Female
  • Humans
  • Lung Neoplasms / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Sensitivity and Specificity
  • Sequence Deletion / genetics

Substances

  • DNA, Neoplasm
  • EGFR protein, human
  • ErbB Receptors