Influence of JAK2 46/1 haplotype in the natural evolution of JAK2V617F allele burden in patients with myeloproliferative neoplasms

Leuk Res. 2012 Mar;36(3):324-6. doi: 10.1016/j.leukres.2011.09.029. Epub 2011 Oct 15.

Abstract

JAK2V617F allele burden was prospectively measured in untreated patients with polycythaemia vera (PV, n=26) or essential thrombocythaemia (ET, n=36) and compared according to JAK2 46/1 haplotype status. The mean increase in JAK2V617F allele burden per year was 1%, 0.8% and 6% for PV patients with the JAK2 46/1 haplotype in negative, heterozygous and homozygous status, respectively (p<0.001). The JAK2 46/1 haplotype had no influence in JAK2V617 allele burden in ET. In conclusion, untreated PV patients homozygous for the JAK2 46/1 haplotype show a progressive increase in the JAK2V617F allele burden during the evolution of the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Biological Evolution*
  • DNA, Neoplasm / genetics
  • Female
  • Follow-Up Studies
  • Haplotypes / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Janus Kinase 2 / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Polycythemia Vera / genetics*
  • Prognosis
  • Prospective Studies
  • Real-Time Polymerase Chain Reaction
  • Thrombocythemia, Essential / genetics*

Substances

  • DNA, Neoplasm
  • JAK2 protein, human
  • Janus Kinase 2