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Leukemia in Down syndrome: a review
1Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
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.
Abstract:
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.