Content available only in Spanish.
Blanca Ferrer-Lores 1, Alicia Serrano-Alcalá 1, Carolina Martínez-Laperche 2, Mónica López-Guerra 3, M.ª Carmen Chillón-Santos 4, Eva Barragán-González 5, Rosa Ayala-Díaz 6, Ruth Stuckey 7, M.ª Teresa Gómez-Casares 7
1 Servicio de Hematología, Hospital Clínico de Valencia, Valencia, España; 2 Servicio de Hematología, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain; 3 Sección de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Barcelona, Spain; 4 Departamento de Hematología, Hospital Universitario de Salamanca-IBSAL, Centro de Investigación del Cáncer-IBMCC (CSIC/USAL), CIBERONC, Salamanca, Spain; 5 Unidad de Biología Molecular, Servicio de Análisis Clínicos, Hospital Universitari i Politècnic La Fe, Valencia, España; 6 Servicio de Hematología, Hospital Universitario 12 de Octubre, Madrid, Spain; 7 Laboratorio de Biología Molecular, Servicio de Hematología, Hospital Universitario de Gran Canaria Doctor Negrín, Las Palmas, Spain
Blanca Ferrer-Lores, Alicia Serrano-Alcalá, Carolina Martínez-Laperche, Mónica López-Guerra, M.ª Carmen Chillón-Santos, Eva Barragán-González, Rosa Ayala-Díaz, Ruth Stuckey, M.ª Teresa Gómez-Casares
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Blanca Ferrer-Lores. Email: ferrer_blalor@gva.es
Introduction: The integration of laboratory and clinical technologies and knowledge is key to an accurate diagnosis of hematologic neoplasms. Over the past decade, next-generation sequencing (NGS) has enabled the molecular characterization of these diseases, identifying mutations, copy number variations, and recurrent fusion genes. This advancement has driven the update of recommendations for the diagnosis and management of patients with hematologic neoplasms. Recent classifications by the World Health Organization, the International Consensus Classification, and the European LeukemiaNet highlight the relevance of genetic data, incorporating them into their diagnostic and risk stratification algorithms. In this context, the implementation of targeted NGS panels is recommended for their ability to simultaneously analyze multiple genetic alterations. Objective: The aim of this work is to review current strategies for the application of NGS and to establish recommendations for a more homogeneous and consensus-based use in diagnostic practice. Material and method: The Molecular Biology Group in Hematology, in collaboration with a panel of experts, developed this consensus guide. Results: Genes of interest were compiled based on their clinical relevance and the scientific evidence. Conclusions: This guide aims to assist professionals in the use of targeted NGS panels in marginal zone lymphomas.
Content available only in Spanish.
