title: Acute megakaryoblastic leukemia in a child with the MLL-AF4 fusion gene.
abstract: 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.
authors.affiliation: Department of Cell Therapy and Transplantation Medicine, University of Tokyo, Tokyo, Japan. jtakita-tky@umin.ac.jp
authors.forename: Junko
authors.initials: J
authors.lastname: Takita
authors.forename: Ai
authors.initials: A
authors.lastname: Motomura
authors.forename: Katsuyoshi
authors.initials: K
authors.lastname: Koh
authors.forename: Kohmei
authors.initials: K
authors.lastname: Ida
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Taki
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Takashi
authors.initials: T
authors.lastname: Igarashi
mesh_terms: D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics*; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*
chemical_list: C113855:MLL-AF4 fusion protein, human; D015514:Oncogene Proteins, Fusion; D051788:Myeloid-Lymphoid Leukemia Protein