JAKing up hematopoietic proliferation

Cancer Cell. 2005 Apr;7(4):291-3. doi: 10.1016/j.ccr.2005.04.002.


Mutations that deregulate proliferation and survival pathways have emerged as a common molecular theme in the pathogenesis of myeloproliferative disorders (MPDs). Three studies now report an amino acid substitution in the JAK2 kinase in most patients with polycythemia vera as well as in some cases of essential thrombocythemia and chronic idiopathic myelofibrosis. Functional analysis demonstrates that this mutation confers erythropoietin-independent growth in vitro, deregulates signaling pathways downstream of JAK2, and causes polycythemia in mice. These results open new avenues for diagnosing and classifying patients with these disorders, and identify a new molecular target for drug discovery.

MeSH terms

  • Animals
  • Erythropoiesis / genetics
  • Humans
  • Janus Kinase 2
  • Mice
  • Models, Biological
  • Mutation / genetics*
  • Myeloproliferative Disorders / genetics*
  • Polycythemia / genetics
  • Polycythemia Vera / genetics
  • Primary Myelofibrosis / genetics
  • Protein-Tyrosine Kinases / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Signal Transduction / genetics
  • Thrombocythemia, Essential / genetics


  • Proto-Oncogene Proteins
  • Protein-Tyrosine Kinases
  • JAK2 protein, human
  • Jak2 protein, mouse
  • Janus Kinase 2