Molecular genetics of paediatric acute myeloid leukaemia

In children, the most frequently occurring haematological malignancies are acute leukaemias, of which 80% are classified as acute lymphoblastic leukaemia (ALL) and 15-20% as acute myeloid leukaemia (AML). Immunophenotyping is generally used to distinguish AML from ALL and subclassifies paediatric AML according to the cell lineage of origin and differentiation stage at which the differentiation arrest occurs. The clinical outcome of cytogenetically normal acute myeloid leukaemia (CN-AML) is highly dependent on the presence of single-gene mutations or cryptic translocations. Several genetic abnormalities found in AML affect histone modification or DNA methylation, which suggests that epigenetic changes also contribute to leukemogenesis. The application of new techniques, especially next-generation sequencing, will contribute to people's understanding of the genetic landscape of AML and allow the development of targeted therapy in the near future. To achieve such goals for a rare disease such as paediatric AML, international collaboration is crucial.