4.7 Article

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

Journal

JOURNAL OF PERSONALIZED MEDICINE
Volume 11, Issue 5, Pages -

Publisher

MDPI
DOI: 10.3390/jpm11050360

Keywords

next-generation sequencing (NGS); validation; gene panels; actionable mutations; precision oncology; targeted therapies; adult solid tumors

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The analytical and clinical feasibility study of the hybridization capture-based NGS panel (Action OncoKitDx) demonstrates its accuracy and robustness in identifying biomarkers in formalin-fixed paraffin-embedded (FFPE) tumor samples. The panel shows good specificity, sensitivity, reproducibility, and repeatability for all analyzed biomarkers, and can detect pathogenic genomic alterations and clinically relevant variants in a high percentage of patient cases across different tumor types. The validation supports the utility of Action OncoKitDx 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 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.

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