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

Raffaella Pasquale, Francesca Fenizia, Riziero Esposito Abate, Alessandra Sacco, Claudia Esposito, Laura Forgione, Anna Maria Rachiglio, Simona Bevilacqua, Agnese Montanino, Renato Franco, Gaetano Rocco, Gerardo Botti, Marc G. Denis, Alessandro Morabito, Antonella De Luca, Nicola Normanno

Research output: Contribution to journalArticle

Abstract

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 and 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.

Original languageEnglish
Pages (from-to)1135-1148
Number of pages14
JournalPharmacogenomics
Volume16
Issue number10
DOIs
Publication statusPublished - Jul 1 2015

Keywords

  • cftDNA
  • EGFR mutations
  • liquid biopsy
  • non-small-cell lung carcinomA
  • PNA-clamp
  • Therascreen<sup>®</sup>

ASJC Scopus subject areas

  • Pharmacology
  • Genetics
  • Molecular Medicine

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