Down Syndrome and Acute Leukemia: Epidemiological and Genetic Relationships

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Abstract
Children with Down syndrome (DS) demonstrate increased risk for acute leukemia. Although the incidence of acute lymphoblastic leukemia is the same in children with and without DS, the rate of occurrence of acute myelogenous leukemia (AML) is increased in children with DS younger than 3 years. Many cases of undifferentiated and blastic leukemias, examined by newer procedures, appear to be acute megakaryoblastic leukemia (AMKL), Fab-M7. Transient leukemoid reaction (TLR), a neonatal phenomenon with many of the features of acute leukemia, also occurs most frequently in children with DS. Although TLR typically remits without treatment, some patients with TLR subsequently develop a true acute leukemia. The relationships between DS, TLR, congenital leukemia, and the various forms of AML are not well understood. Hematological, epidemiological, and cytogenetic evidence linking these phenomena are reviewed and discussed.

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