JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis

Blood. 2006 Sep 1;108(5):1652-60. doi: 10.1182/blood-2006-02-002030. Epub 2006 May 2.

Abstract

A JAK2(V617F) mutation is frequently found in several BCR/ABL-negative myeloproliferative disorders. To address the contribution of this mutant to the pathogenesis of these different myeloproliferative disorders, we used an adoptive transfer of marrow cells transduced with a retrovirus expressing JAK2(V617F) in recipient irradiated mice. Hosts were analyzed during the 6 months after transplantation. For a period of 3 months, mice developed polycythemia, macrocytosis and usually peripheral blood granulocytosis. Transient thrombocytosis was only observed in a low-expresser group. All mice displayed trilineage hyperplasia in marrow and spleen along with an amplification of myeloid and erythroid progenitor cells and a formation of endogenous erythroid colonies. After 3 to 4 months, polycythemia regressed, abnormally shaped red blood cells and platelets were seen in circulation, and a deposition of reticulin fibers was observed in marrow and spleen. Development of fibrosis was associated with anemia, thrombocytopenia, high neutrophilia, and massive splenomegaly. These features mimic human polycythemia vera and its evolution toward myelofibrosis. This work demonstrates that JAK2(V617F) is sufficient for polycythemia and fibrosis development and offers an in vivo model to assess novel therapeutic approaches for JAK2(V617F)-positive pathologies. Questions remain regarding the exact contribution of JAK2(V617F) in other myeloproliferative disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Bone Marrow Cells / pathology
  • Bone Marrow Cells / physiology
  • Female
  • Gene Expression Regulation
  • Gene Expression Regulation, Viral
  • Hematopoietic Stem Cells / physiology*
  • Humans
  • Janus Kinase 2
  • Mice
  • Mice, Inbred C57BL
  • Myeloproliferative Disorders / genetics
  • Myeloproliferative Disorders / pathology
  • Myeloproliferative Disorders / physiopathology*
  • Polycythemia Vera / genetics
  • Polycythemia Vera / pathology
  • Polycythemia Vera / physiopathology*
  • Polymerase Chain Reaction
  • Primary Myelofibrosis / pathology
  • Primary Myelofibrosis / physiopathology*
  • Protein-Tyrosine Kinases / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Retroviridae / genetics

Substances

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