Leukemia acute
Recurrent genetic abnormalities
Myeloid leukemia associated with Down syndrome

Topic Completed: 1 February 2013

Revised: 16 March 2020

Copyright: 2001-2019, PathologyOutlines.com, Inc.

PubMed Search: Myeloid leukemia [title] associated with Down syndrome

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Cite this page: Mihova D. Myeloid Leukemia associated with Down syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/leukemiaacutemyeloiddown.html. Accessed April 3rd, 2020.
Definition / general
  • Myeloid proliferations related to Down syndrome (DS) include transient abnormal myelopoiesis (TAM) and myeloid leukemia associated with Down syndrome; separate categories in WHO 2008
  • Includes both myelodysplastic syndrome and overt AML since there is no biological, prognostic or therapeutic difference
  • Down syndrome patients have 50x incidence of acute leukemia in first 5 years compared to non-DS patients; 50% of these cases beyond the neonatal period are acute megakayrocytic leukemia
  • Mostly < 5 years old
  • 20 - 30% of children with prior history of TAM within 1 - 3 years after TAM
Clinical features
  • Involves peripheral blood, bone marrow, spleen and liver
  • Mostly within first three years of life, indolent, < 20% blasts and thrombocytopenia
  • Preleukemic phase, comparable to refractory cytopenia of childhood (RCC), generally precedes MDS with excess blasts or overt leukemia
Prognostic factors
  • Young children with DS and AML with GATA1 mutation have better response to chemotherapy and better prognosis compared to non-DS with AML (treatment with DS-specific protocols)
  • Older children with GATA1 mutation have poorer prognosis than AML in non-DS children
Case reports
Microscopic (histologic) description
  • Preleukemic phase has refractory cytopenia without significant increase of blasts
  • Dyspoiesis, occasional erythroid precursors in peripheral blood
  • Erythrocytes: anisopoikilocytosis, dacryocytes
  • Thrombocytopenia, giant platelets
  • Bone marrow blasts have round to slightly irregular nuclei and moderate amounts of basophilic cytoplasm, blebs may be present
Microscopic (histologic) images

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Blasts in transient
leukemia associated
with Down syndrome

Positive stains
Negative stains
Molecular / cytogenetics description
  • Trisomy 21 and acquired mutations in GATA1 gene
  • > 5 years old may not have GATA1 mutation
  • Trisomy 8 common
  • Monosomy 7 very rare
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