Acute myeloid leukaemia: How to combine multiple tools

The pathogenesis of acute myeloid leukaemias (AML) frequently requires at least 3 mutations in different cellular pathways. In many cases, mutations in proliferation/survival mechanisms and differentiation pathways are involved. Genetic aberrations explain the pathogenesis of AML, provide prognostic criteria and guide drug design for future therapy. Since the last update of the World Health Organization (WHO) classification of tumours of the hematopoietic and lymphoid tissues in 2008, there have been many discovers regarding the genomic landscape of AML and molecular assays for the detection of minimal residual disease. The identification of unique biomarkers associated with AML, derived from gene expression analysis and next-generation sequencing, may improve significantly the diagnostic criteria. In the new WHO classification published in 2017, several new AML entities are added. Moreover, the prognostic and diagnostic relevance of recently identified molecular features is reviewed and integrated into existing sets of criteria. This article reviews the most common tests and procedures for AML diagnosis, including morphology, immunophenotyping, cytogenetics and molecular genetic testing. The major changes in the new WHO classification for AML are also remarked.