Juvenile myelomonocytic leukaemia is a very rare, aggressive stem cell disorder predominantly affecting infants and young children. Current survival rates are disappointing and the only available curative therapy is haematopoietic stem cell transplantation. Over the last years, intensive research efforts elucidated a plethora of molecular aberrations involved in the pathogenesis of juvenile myelomonocytic leukaemia. Current investigations are mainly directed towards the complete unravelling of the molecular biology behind the disease in order to find more specific drugs. This review will focus on the diagnosis, genomic characterisation and the use of experimental therapies in juvenile myelomonocytic leukaemia.

(BELG J HEMATOL 2014; 5(4): 119–24)