Key result
Transient abnormal myelopoiesis in neonates with Down syndrome is characterized by circulating megakaryoblasts and somatic GATA1 mutations, which can evolve into acute megakaryoblastic leukemia.
Case Report (n=1)
Provides a clinical overview and case study of transient abnormal myelopoiesis in neonates with Down syndrome, highlighting the role of somatic GATA1 mutations.
Alerts clinicians to monitor Down syndrome neonates for TAM progression; leaves open quantification of AMKL risk in prospective cohorts.
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.
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Bombery et al. (2014) conducted a case report in Transient abnormal myelopoiesis in neonates with Down syndrome (n=1). Transient abnormal myelopoiesis in neonates with Down syndrome is characterized by circulating megakaryoblasts and somatic GATA1 mutations, which can evolve into acute megakaryoblastic leukemia.
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