E3 ligase-defective Cbl mutants lead to a generalized mastocytosis and myeloproliferative disease

Blood. 2009 Nov 5;114(19):4197-208. doi: 10.1182/blood-2008-12-190934. Epub 2009 Sep 4.

Abstract

Somatic mutations of Kit have been found in leukemias and gastrointestinal stromal tumors. The proto-oncogene c-Cbl negatively regulates Kit and Flt3 by its E3 ligase activity and acts as a scaffold. We recently identified the first c-Cbl mutation in human disease in an acute myeloid leukemia patient, called Cbl-R420Q. Here we analyzed the role of Cbl mutants on Kit-mediated transformation. Coexpression of Cbl-R420Q or Cbl-70Z with Kit induced cytokine-independent proliferation, survival, and clonogenic growth. Primary murine bone marrow retrovirally transduced with c-Cbl mutants and transplanted into mice led to a generalized mastocytosis, a myeloproliferative disease, and myeloid leukemia. Overexpression of these Cbl mutants inhibited stem cell factor (SCF)-induced ubiquitination and internalization of Kit. Both Cbl mutants enhanced the basal activation of Akt and prolonged the ligand-dependent activation. Importantly, transformation was observed also with kinase-dead forms of Kit and Flt3 in the presence of Cbl-70Z, but not in the absence of Kit or Flt3, suggesting a mechanism dependent on receptor tyrosine kinases, but independent of their kinase activity. Instead, transformation depends on the Src family kinase Fyn, as c-Cbl coimmunoprecipitated with Fyn and inhibition abolished transformation. These findings may explain primary resistance to tyrosine kinase inhibitors targeted at receptor tyrosine kinases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Bone Marrow Transplantation
  • COS Cells
  • Cell Transformation, Neoplastic
  • Chlorocebus aethiops
  • Disease Models, Animal
  • Female
  • Humans
  • Ligands
  • Mastocytosis / etiology
  • Mastocytosis / genetics*
  • Mastocytosis / metabolism
  • Mastocytosis / pathology
  • Mice
  • Mice, Inbred BALB C
  • Mutagenesis, Site-Directed
  • Mutation*
  • Myeloproliferative Disorders / etiology
  • Myeloproliferative Disorders / genetics*
  • Myeloproliferative Disorders / metabolism
  • Myeloproliferative Disorders / pathology
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-cbl / genetics*
  • Proto-Oncogene Proteins c-kit / metabolism
  • Signal Transduction
  • Ubiquitination

Substances

  • Ligands
  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-cbl
  • Proto-Oncogene Proteins c-kit
  • CBL protein, human
  • Cbl protein, mouse