Myeloid leukemia in down syndrome

Irum Khan, Sébastien Malinge, John D. Crispino

Research output: Contribution to journalReview articlepeer-review

87 Scopus citations


Although adults with Down syndrome (DS) show a decreased incidence of cancer compared to individuals without DS, children with DS are at an increased risk of leukemia. Nearly half of these childhood leukemias are classified as acute megakaryoblastic leukemia (AMKL), a relatively rare subtype of acute myeloid leukemia (AML). Here, we summarize the clinical features of myeloid leukemia in DS, review recent research on the mechanisms of leukemogenesis, including the roles of GATA1 mutations and trisomy 21, and discuss treatment strategies. Given that trisomy 21 is a relatively common event in hematologic malignancies, greater knowledge of how the genes on chromosome 21 contribute to DS-AMKL will increase our understanding of a broader class of patients with leukemia.

Original languageEnglish (US)
Pages (from-to)25-36
Number of pages12
JournalCritical Reviews in Oncogenesis
Issue number1-2
StatePublished - 2011


  • Acute megakaryoblastic leukemia (AMKL)
  • GATA-1
  • Transient myeloproliferative disorder (TMD)
  • Trisomy 21

ASJC Scopus subject areas

  • Cancer Research


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