Large B-cell lymphoma: recommendations for next-generation sequencing
- 2026, Volume 45 - Number 2
- Published: May 15, 2026
Large B-cell lymphoma: recommendations for next-generation sequencing
Carolina Martínez-Laperche 1, Miguel Alcoceba-Sánchez 2, Silvia Beà-Bobet 3, Dolors Colomer-Pujol 3, María García-Álvarez 2, M.ª Eugenia Sarasquete 4, Alicia Serrano-Alcalá 5, Blanca Ferrer-Lores 6, Rosa Ayala-Díaz 7, M.ª Carmen Chillón-Santos 2, Mónica López-Guerra 8, M.ª Teresa Gómez-Casares 9, Eva Barragán-González 10, Ruth Stuckey 9
1 Servicio de Hematología, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid. España; 2 Laboratorio de Biología Molecular/HLA, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC); España; 3 Centro de Investigación Biomédica en Red de Cáncer (CIBERONC); Secció d’Hematopatologia, Servei d’Anatomia Patològica, Centre de Diagnòstic Biomèdic, Hospital Clínic, Institut d’Investigacions Biomèdiques August Pi i Sunyer, Barcelona; España; 4 Departamento de Hematología, Hospital Universitario de Salamanca-IBSAL, Centro de Investigación del Cáncer-IBMCC (CSIC/USAL), Salamanca; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC); España; 5 Unidad de Biología Molecular, Servicio de Hematología, Hospital Clínico de Valencia, Instituto de Investigación Sanitaria INCLIVA, Valencia, España; 6 Servicio de Hematología, Hospital Clínico Universitario de Valencia, Valencia, España; 7 Servicio de Hematología, Hospital Universitario 12 de Octubre, Madrid, España; 8 Centro de Investigación Biomédica en Red de Cáncer (CIBERONC); Sección de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Barcelona; España; 9 Laboratorio de Biología Molecular, Servicio de Hematología, Hospital Universitario de Gran Canaria Doctor Negrín, Las Palmas, España; 10 Unidad de Biología Molecular, Servicio de Análisis Clínicos, Hospital Universitari i Politècnic La Fe, Valencia, España
Carolina Martínez-Laperche, Miguel Alcoceba-Sánchez, Silvia Beà-Bobet, Dolors Colomer-Pujol, María García-Álvarez, M.ª Eugenia Sarasquete, Alicia Serrano-Alcalá, Blanca Ferrer-Lores, Rosa Ayala-Díaz, M.ª Carmen Chillón-Santos, Mónica López-Guerra, M.ª Teresa Gómez-Casares, Eva Barragán-González, Ruth Stuckey
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Alicia Serrano-Alcalá, Email not available
Summary
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 large B-cell lymphomas (LBCL), identifying mutations, copy number variations, and recurrent fusion genes. This advance have 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 LBCL. Material and 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 y European LeukemiaNet). Through structured discussion and consensus, genes and chromosomal regions of greatest 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 60 genes and several structural alterations relevant to LBCL was agreed upon. The genomic associations with the described molecular subtypes are detailed, as well as their clinical value. 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 LBCL. Their adoption will promote the standardization of diagnostic practice and contribute to improved classification and management of patients.
Keywords: Large B-cell lymphoma. Next generation sequencing. Consensus guidelines.
