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Acute megakaryoblastic leukemia in a child with the MLL‐AF4 fusion gene

Mixed‐lineage leukemia (MLL) rearrangements are commonly observed in childhood acute lymphoblastic and myeloid leukemia, as well as therapy‐related leukemia. However, the occurrence of MLL rearrangements in acute megakaryoblastic leukemia (AMKL) is very rare. We report a pediatric case of AMKL with the MLL‐AF4 fusion transcript. MLL‐AF4 is derived from t(4;11)(q21:q23) and occurs exclusively in B‐cell lineage leukemia. To our knowledge, MLL‐AF4 as well as t(4;11)(q21:q23) has not been reported in adult and childhood AMKL. Thus, our case provides new insight into the molecular mechanisms of MLL‐AF4‐associated leukemia.