Leukemia in Down syndrome: a review

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Updated: Oct 13, 2026

Assessment of the Metabolic Profile of Primary Leukemia Cells
06:21

Assessment of the Metabolic Profile of Primary Leukemia Cells

Published on: November 21, 2018

A Zipursky1, A Poon, J Doyle

  • 1Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.

Pediatric Hematology and Oncology
|April 1, 1992
PubMed

Insights

Children with Down syndrome (DS) have a higher risk of leukemia, particularly acute megakaryoblastic leukemia (AMKL). Many DS newborns develop transient leukemia (TL), which can progress to AMKL in 20-30% of cases.

Area of Science:

  • Hematology
  • Pediatric Oncology
  • Genetics

Background:

  • Children with Down syndrome (DS) exhibit a significantly higher incidence of leukemia compared to the general population.
  • Acute megakaryoblastic leukemia (AMKL) accounts for approximately 50% of leukemia cases in children with DS, typically occurring within the first four years of life.
  • Leukemic cells in DS often display biphenotypic properties, resembling both megakaryocytic and erythroid progenitors.

Purpose of the Study:

  • To investigate the characteristics and implications of transient leukemia (TL) in newborns with Down syndrome.
  • To understand the relationship between transient leukemia (TL) and the subsequent development of acute megakaryoblastic leukemia (AMKL) in children with Down syndrome.
  • To identify potential risk factors and clinical significance of TL in DS newborns.

Main Methods:

  • Review of clinical data from the Canadian Down Syndrome Leukemia Registry.
  • Analysis of patient case histories and literature reviews.
  • Examination of preliminary evidence regarding the clonal nature and potential fatality of TL.

Main Results:

  • Newborns with Down syndrome (DS) frequently develop transient leukemia (TL), characterized by circulating megakakaryoblasts that resolve within 1-3 months.
  • Transient leukemia (TL) does not occur in normal newborns.
  • A substantial proportion (20-30%) of DS children with transient leukemia (TL) subsequently develop acute megakaryoblastic leukemia (AMKL) between 1-4 years of age.
  • Preliminary findings suggest TL is a clonal proliferation and may be fatal in a subset of DS children.

Conclusions:

  • Transient leukemia (TL) is a distinct pre-leukemic condition in newborns with Down syndrome (DS).
  • Early identification and monitoring of TL in DS newborns are crucial due to the risk of progression to AMKL.
  • Further research is warranted to elucidate the pathogenesis and identify specific subgroups of DS children at higher risk for TL and AMKL.

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