It is associated with GATA1, and risks are increased in individuals with Down syndrome. However, not all cases are associated with Down syndrome, and other genes can also be associated with AMKL. Another related gene is MKL1, which is also identified as "MAL". This gene is a cofactor of serum response factor.
Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a mass of the blasts are megakaryoblastic. It is classified under M7 in the French-American-British organization. This category of AML is relate with 30% or more blasts in the marrow, blast are recognized as being of megakaryocyte lineage by; Expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy.