Instructive Role of MLL-Fusion Proteins Revealed by a Model of t(4;11) Pro-B Acute Lymphoblastic Leukemia

Cancer Cell. 2016 Nov 14;30(5):737-749. doi: 10.1016/j.ccell.2016.10.008.

Abstract

The t(4;11)(q21;q23) fuses mixed-lineage leukemia (MLL) to AF4, the most common MLL-fusion partner. Here we show that MLL fused to murine Af4, highly conserved with human AF4, produces high-titer retrovirus permitting efficient transduction of human CD34+ cells, thereby generating a model of t(4;11) pro-B acute lymphoblastic leukemia (ALL) that fully recapitulates the immunophenotypic and molecular aspects of the disease. MLL-Af4 induces a B ALL distinct from MLL-AF9 through differential genomic target binding of the fusion proteins leading to specific gene expression patterns. MLL-Af4 cells can assume a myeloid state under environmental pressure but retain lymphoid-lineage potential. Such incongruity was also observed in t(4;11) patients in whom leukemia evaded CD19-directed therapy by undergoing myeloid-lineage switch. Our model provides a valuable tool to unravel the pathogenesis of MLL-AF4 leukemogenesis.

Keywords: MLL-AF4; acquired resistance to targeted therapy; acute lymphoblastic leukemia; chimeric fusion proteins; mouse models of cancer; species specificity of oncogenes.

MeSH terms

  • Animals
  • Antigens, CD34 / metabolism*
  • Cell Lineage
  • Cell Transformation, Neoplastic / genetics*
  • Disease Models, Animal
  • Drug Resistance, Neoplasm
  • Histone-Lysine N-Methyltransferase / genetics*
  • Humans
  • Mice
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Myeloid-Lymphoid Leukemia Protein / metabolism
  • Oncogene Proteins, Fusion / genetics
  • Oncogene Proteins, Fusion / metabolism
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / metabolism
  • Translocation, Genetic*

Substances

  • Antigens, CD34
  • KMT2A protein, human
  • MLL-AF4 fusion protein, human
  • MLL-AF9 fusion protein, human
  • Oncogene Proteins, Fusion
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase