JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis

Haematologica. 2007 Dec;92(12):1717-8. doi: 10.3324/haematol.12011.

Abstract

JAK2 exon 12 mutations were detected in 4 out of 20 polycythemia vera and idiopathic erythrocytosis V617F-negative patients and were only present in the myeloid lineage. Initial hematologic data of these patients differ from those of V617F-positive patients, but there is no difference in thrombotic development and myelofibrotic transformation.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Aged
  • Female
  • Humans
  • Janus Kinase 2 / genetics*
  • Janus Kinase 2 / metabolism
  • Middle Aged
  • Mutation, Missense*
  • Myeloid Cells / enzymology
  • Polycythemia / complications
  • Polycythemia / enzymology
  • Polycythemia / genetics*
  • Polycythemia Vera / complications
  • Polycythemia Vera / enzymology
  • Polycythemia Vera / genetics*
  • Primary Myelofibrosis / enzymology
  • Primary Myelofibrosis / etiology
  • Primary Myelofibrosis / genetics
  • Thrombosis / enzymology
  • Thrombosis / etiology
  • Thrombosis / genetics

Substances

  • JAK2 protein, human
  • Janus Kinase 2