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Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors.
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.
Afiliação
  • Martínez-Fernández P; Imegen-Health in Code Group, 46980 Paterna, Spain.
  • Pose P; Servicio de Anatomía Patológica, Hospital Universitario de la Ribera, 46600 Alcira, Spain.
  • Dolz-Gaitón R; Servicio de Anatomía Patológica, Hospital Universitario de la Ribera, 46600 Alcira, Spain.
  • García A; Servicio de Genética Molecular y Radiobiología, Centro Oncológico de Galicia, 15009 A Coruña, Spain.
  • Trigo-Sánchez I; Servicio de Anatomía Patológica, Hospital Universitario Virgen Macarena, 41009 Sevilla, Spain.
  • Rodríguez-Zarco E; Servicio de Anatomía Patológica, Hospital Universitario Virgen Macarena, 41009 Sevilla, Spain.
  • Garcia-Ruiz M; Imegen-Health in Code Group, 46980 Paterna, Spain.
  • Barba I; Imegen-Health in Code Group, 46980 Paterna, Spain.
  • Izquierdo-García M; Imegen-Health in Code Group, 46980 Paterna, Spain.
  • Valero-Garcia J; Imegen-Health in Code Group, 46980 Paterna, Spain.
  • Ruiz C; Imegen-Health in Code Group, 46980 Paterna, Spain.
  • Lázaro M; Imegen-Health in Code Group, 46980 Paterna, Spain.
  • Carbonell P; Imegen-Health in Code Group, 46980 Paterna, Spain.
  • Gargallo P; Imegen-Health in Code Group, 46980 Paterna, Spain.
  • Méndez C; Servicio de Oncología Médica, Centro Oncológico de Galicia, 15009 A Coruña, Spain.
  • Ríos-Martín JJ; Servicio de Anatomía Patológica, Hospital Universitario Virgen Macarena, 41009 Sevilla, Spain.
  • Palmeiro-Uriach A; Laboratorio de Anatomía Patológica, Hospital General Universitario de Castellón, 12004 Castellón, Spain.
  • Camarasa-Lillo N; Anatomía Patológica, Hospital Lluís Alcanyís de Xàtiva, 46800 Xàtiva, Spain.
  • Forteza-Vila J; Anatomía Patológica, Universidade de Santiago de Compostela, 15705 Santiago de Compostela, Spain.
  • Calabria I; Imegen-Health in Code Group, 46980 Paterna, Spain.
J Pers Med ; 11(5)2021 Apr 29.
Article em En | MEDLINE | ID: mdl-33947144
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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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article