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Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic.[1]
It is classified under M7 in the French-American-British classification.[2]
This category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by; Expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy.
It is associated with GATA1, and risks are increased in individuals with Down syndrome.[3]
However, not all cases are associated with Down syndrome,[4] and other genes can also be associated with AMKL.[5]
Another related gene is MKL1, which is also known as “MAL”.[6] This gene is a cofactor of serum response factor.[7]
In adults include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy,and short clinical course. In children; the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7. Complete remission and long term survival are more common in children than adults. In the first three years of life megakaryoblastic leukemia is the most common type of leukemia in patients with Downs syndrome.[8]
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