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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.

General
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● 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

Epidemiology
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● Mostly < 5 years old
● 20-30% of children with prior history of TAM within 1-3 years after TAM

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

Micro description
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● 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
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Acute myeloid leukemia  Echinocyte


Blasts in transient leukemia associated with Down syndrome

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

Negative stains
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● CD14, CD15, MPO and Glycophorin A

Molecular description
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● 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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