title: Assessment of high-sensitive methods for the detection of EGFR mutations in circulating free tumor DNA from NSCLC patients.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  Both approaches were specific and sensitive for EGFR mutational analysis of cftDNA in non-small-cell lung cancer patients.
authors.affiliation: Laboratory of Pharmacogenomics, CROM-Istituto Nazionale Tumori "Fondazione G. Pascale"-IRCCS, Naples, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Pasquale
authors.affiliation: Laboratory of Pharmacogenomics, CROM-Istituto Nazionale Tumori "Fondazione G. Pascale"-IRCCS, Naples, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Fenizia
authors.affiliation: Laboratory of Pharmacogenomics, CROM-Istituto Nazionale Tumori "Fondazione G. Pascale"-IRCCS, Naples, Italy.
authors.forename: Riziero
authors.initials: R
authors.lastname: Esposito Abate
authors.affiliation: Laboratory of Pharmacogenomics, CROM-Istituto Nazionale Tumori "Fondazione G. Pascale"-IRCCS, Naples, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Sacco
authors.affiliation: Laboratory of Pharmacogenomics, CROM-Istituto Nazionale Tumori "Fondazione G. Pascale"-IRCCS, Naples, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Esposito
authors.affiliation: Laboratory of Pharmacogenomics, CROM-Istituto Nazionale Tumori "Fondazione G. Pascale"-IRCCS, Naples, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Forgione
authors.affiliation: Laboratory of Pharmacogenomics, CROM-Istituto Nazionale Tumori "Fondazione G. Pascale"-IRCCS, Naples, Italy.
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Rachiglio
authors.affiliation: Cell Biology & Biotherapy Unit, Istituto Nazionale Tumori "Fondazione G Pascale"-IRCCS, Naples, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Bevilacqua
authors.affiliation: Thoraco-Pulmonary Medical Oncology, Istituto Nazionale Tumori "Fondazione G Pascale"-IRCCS, Naples, Italy.
authors.forename: Agnese
authors.initials: A
authors.lastname: Montanino
authors.affiliation: Surgical Pathology Unit, Istituto Nazionale Tumori "Fondazione G Pascale"-IRCCS, Naples, Italy.
authors.forename: Renato
authors.initials: R
authors.lastname: Franco
authors.affiliation: Thoracic Surgery, Istituto Nazionale Tumori "Fondazione G Pascale"-IRCCS, Naples, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Rocco
authors.affiliation: Surgical Pathology Unit, Istituto Nazionale Tumori "Fondazione G Pascale"-IRCCS, Naples, Italy.
authors.forename: Gerardo
authors.initials: G
authors.lastname: Botti
authors.affiliation: Department of Biochemistry, Nantes University Hospital, Nantes, France.
authors.forename: Marc G
authors.initials: MG
authors.lastname: Denis
authors.affiliation: Thoraco-Pulmonary Medical Oncology, Istituto Nazionale Tumori "Fondazione G Pascale"-IRCCS, Naples, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Morabito
authors.affiliation: Cell Biology & Biotherapy Unit, Istituto Nazionale Tumori "Fondazione G Pascale"-IRCCS, Naples, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: De Luca
authors.affiliation: Laboratory of Pharmacogenomics, CROM-Istituto Nazionale Tumori "Fondazione G. Pascale"-IRCCS, Naples, Italy.|Cell Biology & Biotherapy Unit, Istituto Nazionale Tumori "Fondazione G Pascale"-IRCCS, Naples, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Normanno
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics*; D045744:Cell Line, Tumor; D004252:DNA Mutational Analysis / Q000379:methods; D004273:DNA, Neoplasm; D066246:ErbB Receptors / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D012680:Sensitivity and Specificity; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm; C512478:EGFR protein, human; D066246:ErbB Receptors
keywords: EGFR mutations; PNA-clamp; Therascreen®; cftDNA; liquid biopsy; non-small-cell lung carcinoma