Genetic aberrations in paediatric acute leukaemias and implications for management of patients

Summary The process of malignant transformation in paediatric acute leukaemias is complex, requiring at least two deleterious events resulting in DNA damage. This damage ranges from point-mutations to double-strand DNA breaks leading to various types of chromosomal rearrangements. In this review we summarise the most common genetic aberrations for the three main subtypes of paediatric acute leukaemia: B-cell-precursor acute lymphoblastic leukaemia, T-cell acute lymphoblastic leukaemia and acute myeloid leukaemia. Several genetic aberrations are independent prognostic factors, and are now used in risk stratification for treatment. Molecular pathways activated by genetic aberrations could provide potential molecular targets for novel therapies. Some genetic aberrations represent sensitive targets for molecular detection of minimal residual disease. This provides hope for the development of targeted therapies, effective against leukaemic cells.