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Copyright © 2014 S. Karger AG, Basel. Paediatric myelodysplasia syndromes (MDS) and myeloproliferative disorders (MPD) are rare and genetically and clinically heterogeneous. This review focuses on recent studies outlining the partially characterised pathogenetic germline and/or acquired genetic changes in these disorders, how these changes perturb haemopoiesis and the implications for clinical practice. Identification of causative genetic changes in paediatric MDS/MPD will gather pace as genomes of these disorders are sequenced. These genetic findings are likely to provide a clearer definition of clinically and biologically distinct entities and improve classification of these disorders. Analysis of genetic changes in sequential samples as a disease progresses will allow an understanding of how acquisition of genetic changes during clinical follow-up may mark different clinical courses. Finally, studying the function of the altered proteins resulting from genetic change will hopefully lead to a deeper understanding of the cellular and molecular basis of these disorders with the potential to improve clinical management. Within paediatric MDS/MPD, entities such as juvenile myelomonocytic leukemia and myeloid disorders in Down syndrome are better defined, whereas others, such as sporadic myelodysplasia and essential thrombocytosis and primary polycythaemia have been more difficult to study because of their rarity and clinical and genetic heterogeneity. This review will not cover Philadelphia-positive chronic myeloid leukaemia.

Original publication




Journal article


Pediatric and Adolescent Medicine

Publication Date





81 - 97