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⌂ » Uncategorized » B and T/NK lymphomas: recommendations for next-generation sequencing
Carolina Martínez-Laperche 1, Miguel Alcoceba-Sánchez 2, M.ª Eugenia Sarasquete 2, Santiago Barrio-García 3, Mariana Bastos-Oreiro 4, Silvia Beà-Bobet 5, Cristina Bilbao-Sieyro 6, Dolors Colomer-Pujol 5, Concepción Fernández-Rodríguez 7, Blanca Ferrer-Lores 8, Carlos García-Ballesteros 9, María García-Álvarez 2, Cristina Jiménez-Sánchez 2, Ana Jiménez-Ubieto 3, Alejandro Medina-Herrera 2, Paula Muñiz-Sevilla 10, Alicia Serrano-Alcalá 8, Alejandro Sanz-Rupérez 11, Nerea Vega-García 12, M.ª Teresa Gómez-Casares 6, Ruth Stuckey 6, Mónica López-Guerra 5, M.ª Carmen Chillón-Santos 2, Eva Barragán-González 13, Rosa Ayala-Díaz 3
1 Servicio de Hematología, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain; 2 Departamento de Hematología, Hospital Universitario de Salamanca-IBSAL, Centro de Investigación del Cáncer-IBMCC (CSIC/USAL), CIBERONC, Salamanca, Spain; 3 Servicio de Hematología, Hospital Universitario 12 de Octubre, Madrid, Spain; 4 Servicio de Hematología y Hemoterapia, Hospital General Universitario Gregorio Marañón, Madrid, España; 5 Sección de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Barcelona, Spain; 6 Laboratorio de Biología Molecular, Servicio de Hematología, Hospital Universitario de Gran Canaria Doctor Negrín, Las Palmas, Spain; 7 Laboratorio de Diagnostico Molecular, Servicio de Patología, Hospital del Mar, Barcelona, España; 8 Servicio de Hematología, Hospital Clínico de Valencia, Valencia, España; 9 Laboratorio de Biología Molecular, Servicio de Hematología, Hospital Arnau de Vilanova, Valencia, España; 10 Servicio de Hematología, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, España; 11 Servicio de Hematología, Hospital Infantil Universitario Niño Jesús, Madrid, España; 12 Laboratorio de Hematología, Institut de Recerca Pediátrica, Hospital Sant Joan de Deu, Barcelona, España; 13 Unidad de Biología Molecular, Servicio de Análisis Clínicos, Hospital Universitari i Politècnic La Fe, Valencia, España
Carolina Martínez-Laperche, Miguel Alcoceba-Sánchez, M.ª Eugenia Sarasquete, Santiago Barrio-García, Mariana Bastos-Oreiro, Silvia Beà-Bobet, Cristina Bilbao-Sieyro, Dolors Colomer-Pujol, Concepción Fernández-Rodríguez, Blanca Ferrer-Lores, Carlos García-Ballesteros, María García-Álvarez, Cristina Jiménez-Sánchez, Ana Jiménez-Ubieto, Alejandro Medina-Herrera, Paula Muñiz-Sevilla, Alicia Serrano-Alcalá, Alejandro Sanz-Rupérez, Nerea Vega-García, M.ª Teresa Gómez-Casares, Ruth Stuckey, Mónica López-Guerra, M.ª Carmen Chillón-Santos, Eva Barragán-González, Rosa Ayala-Díaz
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Carolina Martínez-Laperche. Email: cmlaperchehgugm@gmail.com
Introduction: The integration of molecular technologies into clinical practice is essential for the diagnosis and risk stratification of hematologic neoplasms. Next-generation sequencing (NGS) has enabled the genomic characterization of B- and T/NK-cell lymphomas, identifying mutations, copy number variations, and recurrent fusion genes. This advance has motivated the development of specific recommendations for its clinical application. Objective: To develop a consensus guideline defining the priority genes and genetic alterations to be assessed by NGS in B- and T/NK-cell lymphomas. Method: The Molecular Biology Group in Hematology (GBMH), in collaboration with a panel of experts, reviewed recent literature and the main international classifications (World Health Organization, International Consensus Classification and European LeukemiaNet). Through structured discussion and consensus, genes and chromosomal regions of highest clinical relevance were selected and categorized into levels of evidence (mandatory, recommended, and optional) based on their diagnostic, prognostic, and therapeutic utility. Results: A panel of genes and structural alterations relevant to B- and T/NK-cell lymphomas was agreed upon. The guideline provides practical recommendations for the implementation of targeted NGS panels in route clinical practice, highlighting where their use may provide significant diagnostic and prognostic benefit. Conclusions: These recommendations constitute the first national consensus guideline for the application of targeted NGS panels in B- and T/NK-cell lymphomas. Their adoption will promote the standardization of diagnostic practice and contribute to improved classification and management of patients.
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