title: Transient abnormal myelopoiesis in neonates: GATA get the diagnosis.
abstract: Transient abnormal myelopoiesis occurs exclusively in patients with Down syndrome (constitutional trisomy 21), manifests in the neonatal period, and is characterized by circulating megakaryoblasts with varied degrees of multisystem organ involvement. In most cases, this process resolves spontaneously by 3 to 6 months of age, but for some, the disease can be fatal. Affected patients are particularly prone to develop acute megakaryoblastic leukemia in early childhood. Somatic GATA1 mutations are believed to be pivotal in the development of transient abnormal myelopoiesis and have proven to be a marker of clonal identity in its evolution to megakaryoblastic leukemia. We describe a study case of transient abnormal myelopoiesis and review the clinical manifestations, laboratory features, natural history, molecular genetics, and postulated disease pathogenesis of this disorder.
authors.affiliation: From the Department of Pathology, University of Michigan Health System, Ann Arbor.
authors.forename: Melissa
authors.initials: M
authors.lastname: Bombery
authors.forename: Jo-Anne
authors.initials: JA
authors.lastname: Vergilio
mesh_terms: D014408:Biomarkers, Tumor / Q000097:blood / Q000235:genetics*; D004314:Down Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D050982:GATA1 Transcription Factor / Q000097:blood / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007947:Leukemia, Megakaryoblastic, Acute / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D055016:Megakaryocyte Progenitor Cells / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D009363:Neoplasm Proteins / Q000097:blood / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D009363:Neoplasm Proteins