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Myeloid Proliferations of Down Syndrome

  • Lee J. McGhanEmail author
  • Maria A. Proytcheva
Chapter
Part of the Atlas of Anatomic Pathology book series (AAP)

Abstract

Individuals with Down syndrome (DS) have a markedly increased risk of developing unique myeloid proliferations such as transient abnormal myelopoiesis (TAM) and myeloid leukemia associated with Down syndrome (ML-DS) [1, 2]. These proliferations occur in the first 3 years of life and are a result of several transforming genetic events that arise during the fetal and newborn period. The initial event, an additional chromosome 21, leads to increased megakaryocytic proliferation in the fetal liver. Subsequent mutation of GATA-binding protein 1 (GATA1) results in the development of TAM. Further acquisition of additional mutations of epigenetic regulators and common signaling pathways such as JAK family kinases, MPL, and multiple RAS pathway genes leads to the transformation to MS-DS [3].

Keywords

Down syndrome Transient abnormal myelopoiesis Myeloid leukemia associated with Down syndrome Acute megakaryoblastic leukemia GATA1 mutation 

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Copyright information

© Springer Science+Business Media, LLC 2018

Authors and Affiliations

  1. 1.Department of PathologyUniversity of Arizona/Banner University Medical CenterTucsonUSA

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