Mantle cell lymphoma: recommendations for next-generation sequencing

Mantle cell lymphoma: recommendations for next-generation sequencing

Silvia Beà-Bobet 1, Dolors Colomer-Pujol 1, Alejandro Medina-Herrera 2, Ruth Stuckey 3, M.ª Teresa Gómez-Casares 3, Eva Barragán-González 4, Rosa Ayala-Díaz 5, Mónica López-Guerra 6, M.ª Carmen Chillón-Santos 7, Carolina Martínez-Laperche 8

1 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; 2 Departamento de Hematología, Hospital Universitario de Salamanca-IBSAL, Centro de Investigación del Cáncer-IBMCC (CSIC/USAL), CIBERONC, Salamanca, España; 3 Laboratorio de Biología Molecular, Servicio de Hematología, Hospital Universitario de Gran Canaria Doctor Negrín, Las Palmas, España; 4 Unidad de Biología Molecular, Servicio de Análisis Clínicos, Hospital Universitari i Politècnic La Fe, Valencia, España; 5 Servicio de Hematología, Hospital Universitario 12 de Octubre, Madrid, España; 6 Centro de Investigación Biomédica en Red de Cáncer (CIBERONC); Sección de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Barcelona; España; 7 Laboratorio de Biología Molecular/HLA, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC); España; 8 Servicio de Hematología, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid. España

Silvia Beà-Bobet, Dolors Colomer-Pujol, Alejandro Medina-Herrera, Ruth Stuckey, M.ª Teresa Gómez-Casares, Eva Barragán-González, Rosa Ayala-Díaz, Mónica López-Guerra, M.ª Carmen Chillón-Santos, Carolina Martínez-Laperche

La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.

*Correspondence: Alejandro Medina-Herrera, Email not available

Summary

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 (WHO), the International Consensus Classification (ICC), and the European Leu-kemiaNet (ELN) 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: Although NGS is available in many laboratories, its use is not yet standardized, and there is no clear consensus on the methodology or the genes to be evaluated for each pathology. Material and method: The Molecular Biology Group in Hematology (GBMH), 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 mantle cell lymphoma.

Keywords:  Mantle cell lymphoma. Next generation sequencing. Consensus guidelines.

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