Hematologic Malignancies in Children with Down Syndrome: Transient Myeloproliferative Disease and Acute Megakaryoblastic Leukemia

Down Syndrome (DS) is an important genetic disease resulting from partial or total trisomy of chromosome 21 and characterized by dysmorphic facial features, intellectual disabilities and multiple congenital anomalies. Children with DS are at increased risk of developing leukemia. Specifically, 3-10% of newborns with DS are diagnosed with transient myeloproliferative disease, and children with DS are 500 times more likely to develop acute megakaryoblastic leukemia (AMKL), and 20 times more likely to develop acute lymphoblastic leukemia (ALL) than children without DS. In this study, we report two children with DS presented with transient myeloproliferative disease.