CEBPA-mutated leukemia is sensitive to genetic and pharmacological targeting of the MLL1 complex

Leukemia. 2019 Jul;33(7):1608-1619. doi: 10.1038/s41375-019-0382-3. Epub 2019 Jan 24.

Abstract

The gene encoding the transcription factor C/EBPα is mutated in 10-15% of acute myeloid leukemia (AML) patients. N-terminal CEBPA mutations cause ablation of full-length C/EBPα without affecting the expression of a shorter oncogenic isoform, termed p30. The mechanistic basis of p30-induced leukemogenesis is incompletely understood. Here, we demonstrate that the MLL1 histone-methyltransferase complex represents a critical actionable vulnerability in CEBPA-mutated AML. Oncogenic C/EBPα p30 and MLL1 show global co-localization on chromatin and p30 exhibits robust physical interaction with the MLL1 complex. CRISPR/Cas9-mediated mutagenesis of MLL1 results in proliferation arrest and myeloid differentiation in C/EBPα p30-expressing cells. In line, CEBPA-mutated hematopoietic progenitor cells are hypersensitive to pharmacological targeting of the MLL1 complex. Inhibitor treatment impairs proliferation and restores myeloid differentiation potential in mouse and human AML cells with CEBPA mutations. Finally, we identify the transcription factor GATA2 as a direct critical target of the p30-MLL1 interaction. Altogether, we show that C/EBPα p30 requires the MLL1 complex to regulate oncogenic gene expression and that CEBPA-mutated AML is hypersensitive to perturbation of the MLL1 complex. These findings identify the MLL1 complex as a potential therapeutic target in AML with CEBPA mutations.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • CCAAT-Enhancer-Binding Protein-alpha / genetics*
  • CRISPR-Cas Systems*
  • Cell Differentiation
  • Cell Proliferation
  • GATA2 Transcription Factor
  • Hematopoiesis
  • Histone-Lysine N-Methyltransferase / antagonists & inhibitors*
  • Histone-Lysine N-Methyltransferase / genetics
  • Histone-Lysine N-Methyltransferase / metabolism
  • Humans
  • Leukemia, Myeloid, Acute / drug therapy
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myeloid, Acute / pathology*
  • Mutation*
  • Myeloid-Lymphoid Leukemia Protein / antagonists & inhibitors*
  • Myeloid-Lymphoid Leukemia Protein / genetics
  • Myeloid-Lymphoid Leukemia Protein / metabolism
  • Protein Interaction Domains and Motifs / drug effects*
  • Proto-Oncogene Proteins / metabolism
  • Small Molecule Libraries / pharmacology*
  • Tumor Cells, Cultured

Substances

  • CCAAT-Enhancer-Binding Protein-alpha
  • GATA2 Transcription Factor
  • KMT2A protein, human
  • MEN1 protein, human
  • Proto-Oncogene Proteins
  • Small Molecule Libraries
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase