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

Eur J Haematol. 2009 Aug;83(2):149-53. doi: 10.1111/j.1600-0609.2009.01275.x. Epub 2009 May 4.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 4 / genetics
  • Cytogenetic Analysis
  • Female
  • Humans
  • Leukemia, Megakaryoblastic, Acute / genetics*
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Oncogene Proteins, Fusion / genetics*

Substances

  • MLL-AF4 fusion protein, human
  • Oncogene Proteins, Fusion
  • Myeloid-Lymphoid Leukemia Protein