Megakaryoblastic leukemia and Down's syndrome: a review

Pediatr Hematol Oncol. 1987;4(3):211-30. doi: 10.3109/08880018709141272.


Megakaryoblastic leukemia and transient leukemia in Down's syndrome have been reviewed using case reports from the literature and our own experience at the Hospital for Sick Children. The following conclusions have been reached: (1) approximately 20% of leukemia (excluding transient leukemia) in Down's syndrome is acute megakaryoblastic leukemia; (2) approximately 20% of all leukemia in Down's syndrome is transient leukemia; (3) transient leukemia in Down's syndrome is acute megakaryoblastic leukemia; (4) recurrence of acute megakaryoblastic leukemia occurs in 20% of the cases of transient leukemia; and (5) the incidence of acute megakaryoblastic leukemia in Down's syndrome is estimated to be 400 times that in normal children. These observations suggest that a specific form of leukemia, namely acute megakaryoblastic leukemia, has a remarkable association with Down's syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Age Factors
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Canada / epidemiology
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 21
  • Chromosomes, Human, Pair 8
  • Disease Susceptibility
  • Down Syndrome / complications*
  • Down Syndrome / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Leukemia, Megakaryoblastic, Acute / drug therapy
  • Leukemia, Megakaryoblastic, Acute / epidemiology*
  • Leukemia, Megakaryoblastic, Acute / etiology
  • Male
  • Mosaicism
  • Remission, Spontaneous
  • Retrospective Studies