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

Research output: Contribution to journalArticle

18 Citations (Scopus)

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

Fingerprint

Peptide Nucleic Acids
Mutation
DNA
Neoplasms
Non-Small Cell Lung Carcinoma
Exons

Keywords

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

ASJC Scopus subject areas

  • Pharmacology
  • Genetics
  • Molecular Medicine

Cite this

@article{06af46b4ce774adb9aefbc6e619fa46c,
title = "Assessment of high-sensitive methods for the detection of EGFR mutations in circulating free tumor DNA from NSCLC patients",
abstract = "We assessed the ability of the Therascreen{\circledR} 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.",
keywords = "cftDNA, EGFR mutations, liquid biopsy, non-small-cell lung carcinomA, PNA-clamp, Therascreen<sup>{\circledR}</sup>",
author = "Raffaella Pasquale and Francesca Fenizia and {Esposito Abate}, Riziero and Alessandra Sacco and Claudia Esposito and Laura Forgione and Rachiglio, {Anna Maria} and Simona Bevilacqua and Agnese Montanino and Renato Franco and Gaetano Rocco and Gerardo Botti and Denis, {Marc G.} and Alessandro Morabito and {De Luca}, Antonella and Nicola Normanno",
year = "2015",
month = "7",
day = "1",
doi = "10.2217/pgs.15.45",
language = "English",
volume = "16",
pages = "1135--1148",
journal = "Pharmacogenomics",
issn = "1462-2416",
publisher = "Future Medicine Ltd.",
number = "10",

}

TY - JOUR

T1 - Assessment of high-sensitive methods for the detection of EGFR mutations in circulating free tumor DNA from NSCLC patients

AU - Pasquale, Raffaella

AU - Fenizia, Francesca

AU - Esposito Abate, Riziero

AU - Sacco, Alessandra

AU - Esposito, Claudia

AU - Forgione, Laura

AU - Rachiglio, Anna Maria

AU - Bevilacqua, Simona

AU - Montanino, Agnese

AU - Franco, Renato

AU - Rocco, Gaetano

AU - Botti, Gerardo

AU - Denis, Marc G.

AU - Morabito, Alessandro

AU - De Luca, Antonella

AU - Normanno, Nicola

PY - 2015/7/1

Y1 - 2015/7/1

N2 - 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.

AB - 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.

KW - cftDNA

KW - EGFR mutations

KW - liquid biopsy

KW - non-small-cell lung carcinomA

KW - PNA-clamp

KW - Therascreen<sup>®</sup>

UR - http://www.scopus.com/inward/record.url?scp=84941618198&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84941618198&partnerID=8YFLogxK

U2 - 10.2217/pgs.15.45

DO - 10.2217/pgs.15.45

M3 - Article

C2 - 26249748

AN - SCOPUS:84941618198

VL - 16

SP - 1135

EP - 1148

JO - Pharmacogenomics

JF - Pharmacogenomics

SN - 1462-2416

IS - 10

ER -