Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors

Blood. 2014 Feb 27;123(9):1372-83. doi: 10.1182/blood-2013-05-504555. Epub 2014 Jan 7.

Abstract

The main molecular basis of essential thrombocythemia and hereditary thrombocytosis is acquired, and germ-line-activating mutations affect the thrombopoietin signaling axis. We have identified 2 families with hereditary thrombocytosis presenting novel heterozygous germ-line mutations of JAK2. One family carries the JAK2 R867Q mutation located in the kinase domain, whereas the other presents 2 JAK2 mutations, S755R/R938Q, located in cis in both the pseudokinase and kinase domains. Expression of Janus kinase 2 (JAK2) R867Q and S755R/R938Q induced spontaneous growth of Ba/F3-thrombopoietin receptor (MPL) but not of Ba/F3-human receptor of erythropoietin cells. Interestingly, both Ba/F3-MPL cells expressing the mutants and platelets from patients displayed thrombopoietin-independent phosphorylation of signal transducer and activator of transcription 1. The JAK2 R867Q and S755R/R938Q proteins had significantly longer half-lives compared with JAK2 V617F. The longer half-lives correlated with increased binding to the heat shock protein 90 (HSP90) chaperone and with higher MPL cell-surface expression. Moreover, these mutants were less sensitive to JAK2 and HSP90 inhibitors than JAK2 V617F. Our results suggest that the mutations in the kinase domain of JAK2 may confer a weak activation of signaling specifically dependent on MPL while inducing a decreased sensitivity to clinically available JAK2 inhibitors.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Animals
  • Cells, Cultured
  • Drug Resistance / genetics*
  • Female
  • Germ-Line Mutation*
  • HSP90 Heat-Shock Proteins / antagonists & inhibitors
  • Humans
  • Janus Kinase 2 / antagonists & inhibitors
  • Janus Kinase 2 / chemistry
  • Janus Kinase 2 / genetics*
  • Male
  • Mice
  • Middle Aged
  • Pedigree
  • Protein Kinase Inhibitors / therapeutic use*
  • Protein Structure, Tertiary / genetics
  • Thrombocytosis / drug therapy*
  • Thrombocytosis / genetics*
  • Young Adult

Substances

  • HSP90 Heat-Shock Proteins
  • Protein Kinase Inhibitors
  • JAK2 protein, human
  • Janus Kinase 2