Down Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Down Syndrome, including details on education, symptoms, treatment, information.

Origins of leukaemia in children with Down syndrome.

Hitzler JK, Zipursky A

Department of Pediatrics, Division of Hematology/Oncology, The Hospital for Sick Children, University of Toronto, Ontario, Canada. johann.hitzler@sickkids.ca

Transient megakaryoblastic leukaemia is found in 10% of newborns with Down syndrome, characterized by constitutional trisomy 21. Although in most cases the leukaemic cells disappear spontaneously after the first months of life, irreversible acute megakaryoblastic leukaemia develops in 20% of these individuals within 4 years. The leukaemic cells typically harbour somatic mutations of the gene encoding GATA1, an essential transcriptional regulator of normal megakaryocytic differentiation. Leukaemia that specifically arises in the context of constitutional trisomy 21 and somatic GATA1 mutations is a unique biological model of the incremental process of leukaemic transformation.

Published 4 January 2005 in Nat Rev Cancer, 5(1): 11-20.
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