Validation of a Targeted Next-Generation Sequencing Panel for Tumor Mutation Burden Analysis: Results from the Onconetwork Immuno-Oncology Consortium.
A549 Cells
Biomarkers, Tumor
/ genetics
Colorectal Neoplasms
/ genetics
DNA
/ genetics
DNA Mismatch Repair
/ genetics
DNA Mutational Analysis
/ methods
Data Accuracy
High-Throughput Nucleotide Sequencing
/ methods
Humans
MCF-7 Cells
Microsatellite Instability
Reproducibility of Results
Tumor Burden
/ genetics
Journal
The Journal of molecular diagnostics : JMD
ISSN: 1943-7811
Titre abrégé: J Mol Diagn
Pays: United States
ID NLM: 100893612
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
received:
30
09
2020
revised:
26
03
2021
accepted:
12
04
2021
pubmed:
9
5
2021
medline:
21
1
2022
entrez:
8
5
2021
Statut:
ppublish
Résumé
Tumor mutation burden (TMB) is evaluated as a biomarker of response to immunotherapy. We present the efforts of the Onconetwork Immuno-Oncology Consortium to validate a commercial targeted sequencing test for TMB calculation. A three-phase study was designed to validate the Oncomine Tumor Mutational Load (OTML) assay at nine European laboratories. Phase 1 evaluated reproducibility and accuracy on seven control samples. In phase 2, six formalin-fixed, paraffin-embedded samples tested with FoundationOne were reanalyzed with the OTML panel to evaluate concordance and reproducibility. Phase 3 involved analysis of 90 colorectal cancer samples with known microsatellite instability (MSI) status to evaluate TMB and MSI association. High reproducibility of TMB was demonstrated among the sites in the first and second phases. Strong correlation was also detected between mean and expected TMB in phase 1 (r
Identifiants
pubmed: 33964449
pii: S1525-1578(21)00117-3
doi: 10.1016/j.jmoldx.2021.04.008
pii:
doi:
Substances chimiques
Biomarkers, Tumor
0
DNA
9007-49-2
Types de publication
Journal Article
Multicenter Study
Validation Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
882-893Informations de copyright
Copyright © 2021 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.