myeloid leukemia associated with DS


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  • Clinical

    • 1-2% DS children, first 5 yrs (50x risk)
    • encompasses both AML and MDS
    • thrombocytopenia

  • Morphology

    • blood: blasts, anisopoikilocytosis, teardrop cells, throbocytopenia
    • marrow: blasts, dense reticulin
    • blasts are usually megakaryocytic

  • Immunophenotype

    • positive: CD117, CD42, CD61
    • negative: MPO, CD15, CD14, glycophorin A
    • variable: CD34, CD56, CD41

  • Molecular

    • trisomy 21
    • GATA1 mutation
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