Potent inhibition of DOT1L as treatment of MLL-fusion leukemia

Blood. 2013 Aug 8;122(6):1017-25. doi: 10.1182/blood-2013-04-497644. Epub 2013 Jun 25.

Abstract

Rearrangements of the MLL gene define a genetically distinct subset of acute leukemias with poor prognosis. Current treatment options are of limited effectiveness; thus, there is a pressing need for new therapies for this disease. Genetic and small molecule inhibitor studies have demonstrated that the histone methyltransferase DOT1L is required for the development and maintenance of MLL-rearranged leukemia in model systems. Here we describe the characterization of EPZ-5676, a potent and selective aminonucleoside inhibitor of DOT1L histone methyltransferase activity. The compound has an inhibition constant value of 80 pM, and demonstrates 37 000-fold selectivity over all other methyltransferases tested. In cellular studies, EPZ-5676 inhibited H3K79 methylation and MLL-fusion target gene expression and demonstrated potent cell killing that was selective for acute leukemia lines bearing MLL translocations. Continuous IV infusion of EPZ-5676 in a rat xenograft model of MLL-rearranged leukemia caused complete tumor regressions that were sustained well beyond the compound infusion period with no significant weight loss or signs of toxicity. EPZ-5676 is therefore a potential treatment of MLL-rearranged leukemia and is under clinical investigation.

MeSH terms

  • Animals
  • Antineoplastic Agents / pharmacology*
  • Benzimidazoles / pharmacology*
  • Cell Line, Tumor
  • Cell Proliferation
  • DNA Methylation
  • Dose-Response Relationship, Drug
  • Female
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase / antagonists & inhibitors*
  • Histones / metabolism
  • Humans
  • Leukemia / genetics*
  • Leukemia / therapy*
  • Methyltransferases / antagonists & inhibitors*
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Neoplasm Transplantation
  • Protein Conformation
  • Rats
  • Rats, Nude

Substances

  • Antineoplastic Agents
  • Benzimidazoles
  • EPZ-5676
  • Histones
  • Myeloid-Lymphoid Leukemia Protein
  • DOT1L protein, human
  • Histone Methyltransferases
  • Methyltransferases
  • DOT1L protein, rat
  • Histone-Lysine N-Methyltransferase