A patient with Down's syndrome (trisomy 21) is at increased risk for a variety of bone marrow disorders including myelodysplasia.


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

(1) thrombocytopenia and leukopenia

(2) abnormal megakaryocytes in the bone marrow

(3) abnormal karyotype on cytogenetics of the bone marrow, especially trisomy 8


These patients are at increased risk for progression to acute myeloid leukemia, especially acute megakaryocytic leukemia.


Differential diagnosis:

(1) acute lymphoblastic leukemia (ALL)

(2) transient myeloproliferative disorder

(3) acute myeloid leukemia (AML)


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