Myeloid proliferations associated with Down syndrome

Abstract

A subset of Down syndrome (DS) (trisomy 21) neonates is born with a unique erythromegakaryocytic myeloproliferative disorder that spontaneously resolves over the first few months of life (DS-transient abnormal myelopoiesis (DS-TAM); previously called DS-transient myeloproliferative disorder (DS-TMD) and DS-transient leukemia (DS-TL)). These infants are at high risk for developing subsequent acute megakaryoblastic leukemia (myeloid leukemia associated with Down syndrome (ML-DS); previously called DS-acute megakaryoblastic leukemia (DS-AMKL)). The molecular basis for DS-TAM/ML-DS remained mysterious for a long period of time. However, new genetic insights have been gained over the past 12 years that have begun to decipher the pathophysiology of this unusual disorder.