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Open Access 01-04-2019 | Osimertinib | Original Research Article

EGFR Mutations in Cell-free Plasma DNA from Patients with Advanced Lung Adenocarcinoma: Improved Detection by Droplet Digital PCR

Authors: Anna Buder, Ulrike Setinek, Maximilian J. Hochmair, Sophia Schwab, Klaus Kirchbacher, Andrea Keck, Otto C. Burghuber, Robert Pirker, Martin Filipits

Published in: Targeted Oncology | Issue 2/2019

Abstract

Background

Analysis of cell-free DNA from blood could provide an alternative method for identifying genomic changes in the tumors of patients with advanced lung adenocarcinoma.

Objective

We compared the performance of droplet digital PCR (ddPCR) and Cobas^® EGFR Mutation Test v2 (Cobas) for detecting EGFR mutations in cell-free plasma DNA.

Patients and Methods

Plasma samples from patients with advanced EGFR-mutated lung adenocarcinoma were analyzed for EGFR T790M, exon 19 deletions, and L858R mutations by both ddPCR and Cobas.

Results

T790M testing was performed in 354 plasma samples collected from 129 patients. The concordance rate between ddPCR and Cobas for T790M, sensitivity, and specificity were 86, 100, and 85%, respectively. Exon 19 deletions were analyzed in 196 plasma samples obtained from 71 of the 129 patients using both platforms. The concordance rate between ddPCR and Cobas for exon 19 deletions, sensitivity, and specificity were 90, 92, and 89%, respectively. L858R mutations were studied in 124 plasma samples obtained from 44 of the 129 patients using both assays. The concordance rate between ddPCR and Cobas for L858R, sensitivity, and specificity were 90, 91, and 89%, respectively. In patients who progressed under treatment with an EGFR TKI (n = 50), the T790M positivity rate was 66% using ddPCR, but only 24% using Cobas.

Conclusions

We observed a high concordance between ddPCR and Cobas in detecting EGFR mutations in plasma samples of patients with advanced EGFR-mutated lung adenocarcinoma, but ddPCR was more sensitive than Cobas.

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Title: EGFR Mutations in Cell-free Plasma DNA from Patients with Advanced Lung Adenocarcinoma: Improved Detection by Droplet Digital PCR
Authors: Anna Buder
Ulrike Setinek
Maximilian J. Hochmair
Sophia Schwab
Klaus Kirchbacher
Andrea Keck
Otto C. Burghuber
Robert Pirker
Martin Filipits
Publication date: 01-04-2019
Publisher: Springer International Publishing
Keyword: Osimertinib
Published in: Targeted Oncology / Issue 2/2019
Print ISSN: 1776-2596
Electronic ISSN: 1776-260X
DOI: https://doi.org/10.1007/s11523-019-00623-x

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Abstract

Background

Objective

Patients and Methods

Results

Conclusions

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