The AML1-ETO fusion protein promotes the expansion of human hematopoietic stem cells

Blood. 2002 Jan 1;99(1):15-23. doi: 10.1182/blood.v99.1.15.

Abstract

The acute myelogenous leukemia-1 (AML1)-ETO fusion protein is generated by the t(8;21), which is found in 40% of AMLs of the French-American-British M2 subtype. AML1-ETO interferes with the function of the AML1 (RUNX1, CBFA2) transcription factor in a dominant-negative fashion and represses transcription by binding its consensus DNA-binding site and via protein-protein interactions with other transcription factors. AML1 activity is critical for the development of definitive hematopoiesis, and haploinsufficiency of AML1 has been linked to a propensity to develop AML. Murine experiments suggest that AML1-ETO expression may not be sufficient for leukemogenesis; however, like the BCR-ABL isoforms, the cellular background in which these fusion proteins are expressed may be critical to the phenotype observed. Retroviral gene transfer was used to examine the effect of AML1-ETO on the in vitro behavior of human hematopoietic stem and progenitor cells. Following transduction of CD34(+) cells, stem and progenitor cells were quantified in clonogenic assays, cytokine-driven expansion cultures, and long-term stromal cocultures. Expression of AML1-ETO inhibited colony formation by committed progenitors, but enhanced the growth of stem cells (cobblestone area-forming cells), resulting in a profound survival advantage of transduced over nontransduced cells. AML1-ETO-expressing cells retained progenitor activity and continued to express CD34 throughout the 5-week long-term culture. Thus, AML1-ETO enhances the self-renewal of pluripotent stem cells, the physiological target of many acute myeloid leukemias.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Antigens, CD34 / analysis
  • Bone Marrow Cells / cytology
  • Bone Marrow Cells / metabolism
  • Cell Division
  • Cell Line
  • Cell Survival
  • Coculture Techniques
  • Colony-Forming Units Assay
  • Core Binding Factor Alpha 2 Subunit
  • Cytokines / pharmacology
  • Flow Cytometry
  • Gene Expression
  • Genetic Vectors
  • Green Fluorescent Proteins
  • Hematopoietic Stem Cells / cytology*
  • Hematopoietic Stem Cells / immunology
  • Hematopoietic Stem Cells / metabolism
  • Humans
  • Luminescent Proteins / genetics
  • Mice
  • Oncogene Proteins, Fusion / genetics
  • Oncogene Proteins, Fusion / physiology*
  • RUNX1 Translocation Partner 1 Protein
  • Retroviridae / genetics
  • Stromal Cells / physiology
  • Transcription Factors / genetics
  • Transcription Factors / physiology*
  • Transfection

Substances

  • AML1-ETO fusion protein, human
  • Antigens, CD34
  • Core Binding Factor Alpha 2 Subunit
  • Cytokines
  • Luminescent Proteins
  • Oncogene Proteins, Fusion
  • RUNX1 Translocation Partner 1 Protein
  • Transcription Factors
  • Green Fluorescent Proteins