Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors

The increasing identification of driver oncogenic alterations and progress of targeted therapies addresses the need of comprehensive alternatives to standard molecular methods. The translation into clinical practice of next-generation sequencing (NGS) panels is actually challenged by the compliance...

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Bibliographic Details
Published in:Journal of personalized medicine 2021-04, Vol.11 (5), p.360
Main Authors: Martínez-Fernández, Paula, Pose, Patricia, Dolz-Gaitón, Raquel, García, Arantxa, Trigo-Sánchez, Inmaculada, Rodríguez-Zarco, Enrique, Garcia-Ruiz, MJose, Barba, Ibon, Izquierdo-García, Marta, Valero-Garcia, Jennifer, Ruiz, Carlos, Lázaro, Marián, Carbonell, Paula, Gargallo, Pablo, Méndez, Carlos, Ríos-Martín, Juan José, Palmeiro-Uriach, Alberto, Camarasa-Lillo, Natalia, Forteza-Vila, Jerónimo, Calabria, Inés
Format: Article
Language:English
Subjects:
Biomarkers
Cancer
Chromosomes
Clinical medicine
Clinical trials
Copy number
Feasibility studies
Genomes
Hybridization
International organizations
Microsatellite instability
Mutation
Next-generation sequencing
Oncology
Paraffin
Precision medicine
Quality control
Reproducibility
Single-nucleotide polymorphism
Software
Solid tumors
Tumorigenesis
Tumors
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Summary:The increasing identification of driver oncogenic alterations and progress of targeted therapies addresses the need of comprehensive alternatives to standard molecular methods. The translation into clinical practice of next-generation sequencing (NGS) panels is actually challenged by the compliance of high quality standards for clinical accreditation. Herein, we present the analytical and clinical feasibility study of a hybridization capture-based NGS panel (Action OncoKitDx) for the analysis of somatic mutations, copy number variants (CNVs), fusions, pharmacogenetic SNPs and Microsatellite Instability (MSI) determination in formalin-fixed paraffin-embedded (FFPE) tumor samples. A total of 64 samples were submitted to extensive analytical validation for the identification of previously known variants. An additional set of 166 tumor and patient-matched normal samples were sequenced to assess the clinical utility of the assay across different tumor types. The panel demonstrated good specificity, sensitivity, reproducibility, and repeatability for the identification of all biomarkers analyzed and the 5% limit of detection set was validated. Among the clinical cohorts, the assay revealed pathogenic genomic alterations in 97% of patient cases, and in 82.7%, at least one clinically relevant variant was detected. The validation of accuracy and robustness of this assay supports the Action OncoKitDx's utility in adult solid tumors.
ISSN:2075-4426
2075-4426
DOI:10.3390/jpm11050360