Profiling of circulating tumor DNA in plasma of non-small cell lung cancer patients, monitoring of epidermal growth factor receptor p.T790M mutated allelic fraction using beads, emulsion, amplification, and magnetics companion assay and evaluation in future application in mimicking circulating tumor cells.
Alleles
Biomarkers, Tumor
Carcinoma, Non-Small-Cell Lung
/ blood
Circulating Tumor DNA
DNA Mutational Analysis
DNA, Neoplasm
Disease Progression
ErbB Receptors
/ genetics
Gene Expression Profiling
/ methods
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Humans
Liquid Biopsy
/ methods
Lung Neoplasms
/ blood
Mutation
Neoplastic Cells, Circulating
/ metabolism
NGS
circulating-free DNA
digital PCR
liquid biopsy
lung cancer
Journal
Cancer medicine
ISSN: 2045-7634
Titre abrégé: Cancer Med
Pays: United States
ID NLM: 101595310
Informations de publication
Date de publication:
07 2019
07 2019
Historique:
received:
21
02
2019
revised:
12
04
2019
accepted:
26
04
2019
pubmed:
22
5
2019
medline:
4
8
2020
entrez:
22
5
2019
Statut:
ppublish
Résumé
Cell-free plasma DNA (cfDNA) and mimicking circulating tumor cells (mCTCs) have demonstrated tremendous potential for molecular diagnosis of cancer and have been rapidly implemented in specific settings. However, widespread clinical adoption still faces some obstacles. The purpose was to compare the performance of a BEAMing (beads, emulsion, amplification, and magnetics) assay (OncoBEAM™-epidermal growth factor receptor [EGFR] [Sysmex Inostics]) and a next-generation sequencing assay (NGS; 56G Oncology panel kit, Swift Bioscience) to detect the p.T790M EGFR mutation in cfDNA of non-small cell lung cancer (NSCLC) patients. CfDNA samples (n = 183) were collected within our hospital from patients having a known EGFR sensitizing mutation, and presenting disease progression while under first-line therapy. EGFR mutations were detected using NGS in 42.1% of samples during progression in cfDNA. Testing using the OncoBEAM™-EGFR assay enabled detection of the p.T790M EGFR mutation in 40/183 NSCLC patients (21.8%) versus 20/183 (10.9%), using the NGS assay. Samples that were only positive with the OncoBEAM™-EGFR assay had lower mutant allelic fractions (Mean = 0.1304%; SD ± 0.1463%). In addition, we investigated the detection of p.T790M in mCTCs using H1975 cells. These cells spiked into whole blood were enriched using the ClearCellFX1 microfluidic device. Using the OncoBEAM™-EGFR assay, p.T790M was detected in as few as 1.33 tumoral cells/mL. Overall, these findings highlight the value of using the OncoBEAM™-EGFR to optimize detection of the p.T790M mutation, as well as the complementary clinical value that each of the mutation detection assay offers: NGS enabled the detection of mutations in other oncogenes that may be relevant to secondary resistance mechanisms, whereas the OncoBEAM™-EGFR assay achieved higher sensitivity for detection of clinically actionable mutations.
Identifiants
pubmed: 31112372
doi: 10.1002/cam4.2244
pmc: PMC6866744
doi:
Substances chimiques
Biomarkers, Tumor
0
Circulating Tumor DNA
0
DNA, Neoplasm
0
EGFR protein, human
EC 2.7.10.1
ErbB Receptors
EC 2.7.10.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
3685-3697Informations de copyright
© 2019 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.
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