Abstract

Acute Megakaryoblastic Leukemia (AMKL) is a rare and biologically heterogenous subtype of Acute Myeloid Leukemia (AML) with a diverse cytogenetic profile. Mix-lineage leukemia (MLL) rearrangements are commonly found in infant Acute Lymphoblastic Leukemia (ALL) and childhood AML. However, the occurrence of MLL rearrangements in AMKL is very rare. Here, we report a pediatric case of AMKL with MLL- AF4 fusion derived from t(4;11) (q21;q23). To our knowledge, the case has not been reported from China. Our observation supports understanding of molecular diversity in AMKL. The varying molecular features of AMKL are warranted to fully understand to develop novel therapeutic strategies.

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