Burkitt lymphoma: recommendations for next-generation sequencing

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: This study aims to establish consensus-based recommendations for the standardized application of NGS in the molecular diagnosis of Burkitt lymphoma, defining key genes and genetic alterations according to the current scientific evidence. Material and methods: The Molecular Biology Group in Hematology (GBMH), together with a multidisciplinary panel of experts, reviewed recent scientific literature and major international classifications (WHO, ICC, ELN). Based on this review, a structured consensus was developed through discussion sessions and peer validation. 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 Burkitt lymphoma.