In:
PLOS ONE, Public Library of Science (PLoS), Vol. 16, No. 2 ( 2021-2-8), p. e0246048-
Abstract:
We present data on analytical validation of the multigene variant profiling assay (CellDx) to provide actionable indications for selection of targeted and immune checkpoint inhibitor (ICI) therapy in solid tumors. CellDx includes Next Generation Sequencing (NGS) profiling of gene variants in a targeted 452-gene panel as well as status of total Tumor Mutation Burden (TMB), Microsatellite instability (MSI), Mismatch Repair (MMR) and Programmed Cell Death—Ligand 1 (PD-L1) respectively. Validation parameters included accuracy, sensitivity, specificity and reproducibility for detection of Single Nucleotide Alterations (SNAs), Copy Number Alterations (CNAs), Insertions and Deletions (Indels), Gene fusions, MSI and PDL1. Cumulative analytical sensitivity and specificity of the assay were 99.03 (95% CI: 96.54–99.88) and 99.23% (95% CI: 98.54% - 99.65%) respectively with 99.20% overall Accuracy (95% CI: 98.57% - 99.60%) and 99.7% Precision based on evaluation of 116 reference samples. The clinical performance of CellDx was evaluated in a subsequent analysis of 299 clinical samples where 861 unique mutations were detected of which 791 were oncogenic and 47 were actionable. Indications in MMR, MSI and TMB for selection of ICI therapies were also detected in the clinical samples. The high specificity, sensitivity, accuracy and reproducibility of the CellDx assay is suitable for clinical application for guiding selection of targeted and immunotherapy agents in patients with solid organ tumors.
Type of Medium:
Online Resource
ISSN:
1932-6203
DOI:
10.1371/journal.pone.0246048
DOI:
10.1371/journal.pone.0246048.g001
DOI:
10.1371/journal.pone.0246048.g002
DOI:
10.1371/journal.pone.0246048.t001
DOI:
10.1371/journal.pone.0246048.s001
DOI:
10.1371/journal.pone.0246048.s002
DOI:
10.1371/journal.pone.0246048.s003
DOI:
10.1371/journal.pone.0246048.s004
DOI:
10.1371/journal.pone.0246048.s005
DOI:
10.1371/journal.pone.0246048.s006
DOI:
10.1371/journal.pone.0246048.s007
DOI:
10.1371/journal.pone.0246048.s008
DOI:
10.1371/journal.pone.0246048.s009
DOI:
10.1371/journal.pone.0246048.s010
DOI:
10.1371/journal.pone.0246048.s011
DOI:
10.1371/journal.pone.0246048.r001
DOI:
10.1371/journal.pone.0246048.r002
DOI:
10.1371/journal.pone.0246048.r003
DOI:
10.1371/journal.pone.0246048.r004
DOI:
10.1371/journal.pone.0246048.r005
DOI:
10.1371/journal.pone.0246048.r006
Language:
English
Publisher:
Public Library of Science (PLoS)
Publication Date:
2021
detail.hit.zdb_id:
2267670-3
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