Leukemia in Down syndrome: a review

Pediatr Hematol Oncol. 1992 Apr-Jun;9(2):139-49. doi: 10.3109/08880019209018329.


The incidence of leukemia is higher in children with Down syndrome (DS) than in normals. In approximately 50% of cases the type of leukemia is acute megakaryoblastic leukemia (AMKL) and it occurs during the first 4 years of life. The leukemic cell also has features of erythroid progenitors and therefore appears to be a precursor cell with biphenotypic properties. In addition, newborns with DS frequently develop transient leukemia (TL), which is characterized by the presence of megakaryoblasts in the blood which disappear during the first 1-3 months of life. The incidence of this disorder is unknown although preliminary studies suggest that megakaryoblasts may be found frequently in the blood of DS newborns. TL does not occur in normal newborn infants. Although TL disappears spontaneously, many of these children will develop AMKL at 1-4 years of age. Recent surveys suggest that 20-30% of newborns with TL will develop AMKL. Preliminary evidence suggests that TL is a clonal proliferation, can be fatal, and may occur in a specific subgroup of DS children. The observations in this report are drawn from our own experience, reports in the literature, and data accumulated in the Canadian Down Syndrome Leukemia Registry.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Canada / epidemiology
  • Child
  • Child, Preschool
  • Down Syndrome / complications*
  • Down Syndrome / genetics
  • Genetic Predisposition to Disease
  • Hematopoietic Stem Cells / pathology
  • Humans
  • Hydrops Fetalis / complications
  • Hydrops Fetalis / epidemiology
  • Incidence
  • Infant
  • Infant, Newborn
  • Leukemia, Megakaryoblastic, Acute / complications*
  • Leukemia, Megakaryoblastic, Acute / epidemiology
  • Leukemia, Megakaryoblastic, Acute / genetics
  • Megakaryocytes
  • Neoplastic Stem Cells / pathology
  • Nondisjunction, Genetic
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / complications*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / epidemiology
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Preleukemia / complications
  • Preleukemia / epidemiology
  • Preleukemia / genetics