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Myeloid leukemia in children 4 years or older with Down syndrome often lacks GATA1 mutation and cytogenetics and risk of relapse are more akin to sporadic AML

Leukemia volume 22, pages 1428–1430 (2008)Cite this article

Children with Down syndrome (DS) have a 40-fold increased risk of acute lymphoblastic leukemia and a 150-fold increased risk of acute myeloid leukemia (AML) before 5 years of age.1 A modest increase in the risk of leukemia persists into young adulthood.

The age distribution of myeloid leukemia in DS is very distinctive with about 50% of the patients diagnosed at 1 year of age, about one-third at 2 years of age and only 1–2% diagnosed at more than 4 years of age.2 Myeloid leukemia in younger children with DS has a number of distinctive clinical and laboratory characteristics including a period of thrombocytopenia preceding diagnosis, a predominance of megakaryoblasts, mutations of the hematopoietic transcription factor GATA1 and an excellent outcome when treated on modified AML protocols.3, 4, 5, 6 These unique features have resulted in this leukemia being recognized as a separate entity in the pediatric classification of myeloid leukemias; myeloid leukemia of Down syndrome (ML-DS).7

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Authors and Affiliations

  1. Department of Paediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark

    H Hasle

  2. Department of Clinical Sciences, Queen Silvia's Children's Hospital, Gothenburg, Sweden

    J Abrahamsson

  3. Division of Pediatric Hematology and Oncology, Tampere University Hospital, Tampere, Finland

    M Arola

  4. Department of Paediatrics and Adolescent Medicine, University of Freiburg, Germany

    A Karow

  5. Department of Haematology, Our Lady's Hospital for Sick Children, Dublin, Ireland

    A O'Marcaigh

  6. AML-BFM trials, Pediatric Hematology/Oncology, Medical School Hanover, Germany

    D Reinhardt

  7. Great Ormond Street Hospital for Children, London, UK

    D K H Webb

  8. Dutch Childhood Oncology Group, Den Haag, The Netherlands

    E van Wering

  9. Department of Paediatrics, Rikshospitalet-Radiumhospitalet University Hospital, Oslo, Norway

    B Zeller

  10. Department of Oncology/Hematology, Erasmus MC/Sophia Children's Hospital, Rotterdam, The Netherlands

    C M Zwaan

  11. The Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK

    P Vyas

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  1. H Hasle
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Correspondence to H Hasle.

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Hasle, H., Abrahamsson, J., Arola, M. et al. Myeloid leukemia in children 4 years or older with Down syndrome often lacks GATA1 mutation and cytogenetics and risk of relapse are more akin to sporadic AML. Leukemia 22, 1428–1430 (2008). https://doi.org/10.1038/sj.leu.2405060

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