Leukemic potential of doubly mutant Nf1 and Wv hematopoietic cells

Blood. 2003 Mar 1;101(5):1984-6. doi: 10.1182/blood-2002-08-2635. Epub 2002 Oct 17.

Abstract

The development of molecularly targeted treatments of adult leukemias warrants investigation of these targets in similar pediatric leukemias. The NF1 tumor suppressor gene, which encodes a GTPase activating protein for p21(ras), is frequently inactivated in juvenile myelomonocytic leukemia (JMML). Other patients with JMML acquire activating RAS gene mutations. Recipient mice reconstituted with Nf1-/- fetal hematopoietic cells develop a myeloproliferative disease (MPD) that models the human disease. JMML arises from clonal expansion of a hematopoietic stem cell, and JMML cells and murine Nf1-/- hematopoietic cells are hypersensitive to granulocyte macrophage-colony stimulating factor and KitL, the ligand for c-kit. We generated embryos doubly mutant for the Wv allele of c-kit and Nf1 to ask if reduction of c-kit activity would delay or prevent the development of MPD. Despite a reduction in c-kit activity to approximately 10% of wild-type levels, Nf1-/-;Wv/Wv cells induced MPD in recipient mice.

Publication types

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

MeSH terms

  • Alleles
  • Animals
  • Cell Transformation, Neoplastic / genetics*
  • Colony-Forming Units Assay
  • Crosses, Genetic
  • Disease Models, Animal*
  • Gene Targeting
  • Genes, Neurofibromatosis 1*
  • Granulocyte-Macrophage Colony-Stimulating Factor / pharmacology
  • Hematopoietic Stem Cell Transplantation / adverse effects*
  • Interleukin-1 / pharmacology
  • Interleukin-3 / pharmacology
  • Leukemia, Myelomonocytic, Acute / genetics*
  • Liver / cytology
  • Liver / embryology
  • Macrophage Colony-Stimulating Factor / pharmacology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Myeloproliferative Disorders / etiology*
  • Neurofibromin 1 / deficiency*
  • Proto-Oncogene Proteins c-kit / genetics
  • Proto-Oncogene Proteins c-kit / physiology*
  • Radiation Chimera
  • Recombinant Proteins / pharmacology
  • Stem Cell Factor / pharmacology

Substances

  • Interleukin-1
  • Interleukin-3
  • Neurofibromin 1
  • Recombinant Proteins
  • Stem Cell Factor
  • Macrophage Colony-Stimulating Factor
  • Granulocyte-Macrophage Colony-Stimulating Factor
  • Proto-Oncogene Proteins c-kit