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Leukemia - Acute

AML not otherwise categorized

Myeloid leukemia associated with Down syndrome

Reviewer: Daniela Mihova, M.D. (see Reviewers page)
Revised: 1 February 2013, last major update September 2012
Copyright: (c) 2001-2013, PathologyOutlines.com, Inc.


● 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 features

● 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

● Stillborn fetus with severe disease (Nat Clin Pract Oncol 2007;4:433)

Micro 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

Micro images

Acute myeloid leukemia  Echinocyte

Blasts in transient leukemia associated with Down syndrome

Positive stains

● CD4, CD7, CD13, CD33, CD34 (50%), CD36, CD41 (70%), CD42, CD56 (70%), CD61, CD71, CD117, TPO-R and IL-3R

Negative stains

● CD14, CD15, MPO and Glycophorin A

Molecular description

● Trisomy 21 and acquired mutations in GATA1 gene
● > 5 years old may not have GATA1 mutation
● Trisomy 8 common
● Monosomy 7 very rare

End of Leukemia - Acute > AML not otherwise categorized > Myeloid leukemia associated with Down syndrome

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