Acute myeloid leukemia: 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:Although NGS is available in many laboratories, its use still lacks standardized, and experts have yet to agree on the best methods or gene targets for each disease.Material and method: The Molecular Biology Group in Hematology (GBMH), in collaboration with a panel of experts, developed this consensus guide.