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Chronic Myeloid Neoplasms

Miscellaneous myelodysplastic / myeloproliferative type neoplasms

Transient myeloproliferative disorder (TMD) of Down’s syndrome

Reviewer: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 11 August 2011, last major update August 2011
Copyright: (c) 2001-2011, PathologyOutlines.com, Inc.


● Also called transient abnormal myelopoiesis, transient leukemia
● Affects 10% of newborns with Down’s syndrome
● Resembles congenital acute leukemia; occurs within first days of life with numerous blasts in peripheral blood, more than those in marrow
● High rate of spontaneous resolution; usually resolves in 2-14 weeks in neonates, but 20-30% progress to AML-M7 [FAB] (acute megakaryoblastic leukemia) within 3 years
● Early death in 17%, is associated with high WBC at diagnosis, increased bilirubin and liver enzymes, failure to normalize WBC (Blood 2006;107:4606)
● Rarely occurs with trisomy 21 but without Down’s syndrome (Arch Dis Child Fetal Neonatal Ed 1998;79:F215)
● Associated with hepatic fibrosis (J Clin Pathol 1995;48:973)


● WBC up to 100K with 30-50% blasts, nucleated red blood cells, micromegakaryocytes, thrombocytopenia

Case reports

● Neonate whose blasts exhibited erythroid differentiation (Arch Pathol Lab Med 2002;126:474)
● Nonimmune hydrops in a newborn with Down’s syndrome (Arch Pathol Lab Med 2001;125:1609)
● Placental chorangiosis and aggregates of immature cells with early vascular invasion, but full recovery (Hum Pathol 2000;31:396)

Micro description

Bone marrow: blasts have moderate basophilic cytoplasm with coarse azurophilic granules resembling those in basophils, cytoplasmic blebbing suggestive of megakaryoblasts; round to slightly irregular nuclei; also promegakaryocytes, micromegakaryocytes, dyserythropoiesis

Micro images

Peripheral blood:

Various images and stains

Blasts in transient myeloproliferative disorder of Down’s syndrome

Erythroid blasts with PAS+ granules

Positive stains

● Platelet antigens CD41 (100%), CD42b (75%), CD61 (75%)
● Also CD7 (93%), CD13 (47%), CD14 (27%) CD34 (89%), CD33 (83%), CD45 (100%), HLA-DR (80%) (Am J Clin Pathol 2001;116:204, Blood 2006;107:4606)

Negative stains

● CD10, myeloperoxidase, Sudan Black B, PAS

Flow cytometry images

Transient myeloproliferative disorder with erythroid differentiation in Down’s syndrome

Molecular description

● Mutations in GATA1 gene in almost all cases (compared to 4% of all Down’s syndrome infants, Blood 2007;110:2128)
● Specific mutations may differ in TMD and subsequent AML-M7/AMKL (Int J Hematol 2007;86:250)
● Loss of GATA1 impairs maturation of megakaryocyte erythroid progenitors (Blood 2006;107:87)
● JAK3 mutations found in 50% (Br J Haematol 2007;137:337)

Differential diagnosis

Congenital leukemia: clinically aggressive

End of Chronic Myeloid Neoplasms > Miscellaneous > Transient myeloproliferative disorder (TMD) of Down’s syndrome

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