Clinical relevance of JAK2 (V617F) mutant allele burden

Haematologica. 2009 Jan;94(1):7-10. doi: 10.3324/haematol.2008.001271.

Abstract

Variable proportions of hematopoietic cells that are heterozygous or homozygous for the JAK2 (V617) mutation can be found in patients with myeloproliferative neoplasms. In this perspective article, Dr. Passamonti and Rumi discuss the biologic and clinical significance of the mutant allele burden. See related paper on page 38.

Publication types

  • Comment

MeSH terms

  • Alleles*
  • Female
  • Humans
  • Janus Kinase 2 / analysis*
  • Janus Kinase 2 / genetics*
  • Janus Kinase 2 / metabolism
  • Male
  • Mutation / genetics
  • Pedigree
  • Phenotype
  • Phenylalanine / genetics
  • Phenylalanine / metabolism
  • Thrombocythemia, Essential / blood
  • Thrombocythemia, Essential / enzymology
  • Thrombocythemia, Essential / genetics
  • Valine / genetics
  • Valine / metabolism

Substances

  • Phenylalanine
  • Janus Kinase 2
  • Valine