Myeloproliferative neoplasms: 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 (WHO), the International Consensus Classification (ICC), and the European LeukemiaNet (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: Establish consensus-based recommendations for the standardized application of NGS studies in the molecular diagnosis of myeloproliferative neoplasms, defining the most relevant genes and alterations according to the available scientific evidence.Material and method: The Molecular Biology in Hematology Group (GBMH), in collaboration with a multidisciplinary panel of experts, reviewed recent scientific literature and the main international classi-fications (WHO, ICC, ELN).Based on this review, a structured consensus was developed through discussion meetings