JAK2V617F expression in mice amplifies early hematopoietic cells and gives them a competitive advantage that is hampered by IFNα

Blood. 2013 Aug 22;122(8):1464-77. doi: 10.1182/blood-2013-04-498956. Epub 2013 Jul 17.

Abstract

The acquired gain-of-function V617F mutation in the Janus Kinase 2 (JAK2(V617F)) is the main mutation involved in BCR/ABL-negative myeloproliferative neoplasms (MPNs), but its effect on hematopoietic stem cells as a driver of disease emergence has been questioned. Therefore, we reinvestigated the role of endogenous expression of JAK2(V617F) on early steps of hematopoiesis as well as the effect of interferon-α (IFNα), which may target the JAK2(V617F) clone in humans by using knock-in mice with conditional expression of JAK2(V617F) in hematopoietic cells. These mice develop a MPN mimicking polycythemia vera with large amplification of myeloid mature and precursor cells, displaying erythroid endogenous growth and progressing to myelofibrosis. Interestingly, early hematopoietic compartments [Lin-, LSK, and SLAM (LSK/CD48-/CD150+)] increased with the age. Competitive repopulation assays demonstrated disease appearance and progressive overgrowth of myeloid, Lin-, LSK, and SLAM cells, but not lymphocytes, from a low number of engrafted JAK2(V617F) SLAM cells. Finally, IFNα treatment prevented disease development by specifically inhibiting JAK2(V617F) cells at an early stage of differentiation and eradicating disease-initiating cells. This study shows that JAK2(V617F) in mice amplifies not only late but also early hematopoietic cells, giving them a proliferative advantage through high cell cycling and low apoptosis that may sustain MPN emergence but is lost upon IFNα treatment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis*
  • Bone Marrow Cells / cytology
  • Bone Marrow Transplantation
  • Cell Cycle
  • Crosses, Genetic
  • Disease Models, Animal
  • Hematopoietic Stem Cells / cytology*
  • Humans
  • Interferon-alpha / metabolism*
  • Janus Kinase 2 / genetics*
  • Janus Kinase 2 / metabolism*
  • Lymphocytes / cytology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Mutation*
  • Myeloproliferative Disorders / genetics
  • Phenotype
  • Polycythemia Vera / genetics
  • Primary Myelofibrosis / metabolism
  • Stem Cells / cytology

Substances

  • Interferon-alpha
  • Janus Kinase 2