A patient with Down's Syndrome (Trisomy 21) is at increased risk for developing acute myeloid leukemia (AML).


Features of AML in a patient with Down's syndrome:

(1) It tends to affect children < 4 years of age. The prognosis is best for children 0 to 2 years of age and worst for children > 4 years of age.

(2) It often is preceded by myelodysplastic syndrome or transient leukemia.

(3) It most often is acute megakaryoblastic leukemia (M7 in the FAB). This may be misdiagnosed as ALL unless appropriate stains are performed.

(4) It is highly responsive to therapy.

(5) Transient leukemia and acute megakaryoblastic leukemia are associated with mutations in the gene for the hematopoietic transcription factor GATA1.


Differential diagnosis:

(1) myelodysplastic syndrome (MDS)

(2) transient myeloproliferative disorder, alternatively termed transient leukemia

(3) acute lymphoblastic leukemia (ALL)


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