Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders

Blood. 2006 Aug 15;108(4):1377-80. doi: 10.1182/blood-2005-11-009605. Epub 2006 May 4.

Abstract

An acquired gain-of-function mutation in the Janus kinase 2 (JAK2-V617F) is frequently found in patients with myeloproliferative disorders (MPDs). To test the hypothesis that JAK2-V617F is the disease-initiating mutation, we examined whether all cells of clonal origin carry the JAK2-V617F mutation. Using allele-specific polymerase chain reaction (PCR) assays for the JAK2 mutation and for the X-chromosomal clonality markers IDS and MPP1, we found that the percentage of granulocytes and platelets with JAK2-V617F was often markedly lower than the percentage of clonal granulocytes determined by IDS or MPP1 clonality assays in female patients. Using deletions of chromosome 20q (del20q) as an autosomal, X-chromosome-independent clonality marker, we found a similar discrepancy between the percentage of cells carrying JAK2-V617F and del20q. Our results suggest that in a proportion of patients with MPDs, JAK2-V617F occurs on the background of clonal hematopoiesis caused by a somatic mutation in an as-yet-unknown gene.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Substitution*
  • Blood Platelets / pathology
  • Chromosomes, Human, Pair 20 / genetics
  • Chromosomes, Human, X / genetics
  • DNA Mutational Analysis
  • Female
  • Genetic Markers / genetics
  • Granulocytes / pathology
  • Hematopoiesis / genetics
  • Humans
  • Janus Kinase 2
  • Male
  • Middle Aged
  • Myeloproliferative Disorders / genetics*
  • Myeloproliferative Disorders / pathology
  • Point Mutation*
  • Protein-Tyrosine Kinases / genetics*
  • Proto-Oncogene Proteins / genetics*

Substances

  • Genetic Markers
  • Proto-Oncogene Proteins
  • Protein-Tyrosine Kinases
  • JAK2 protein, human
  • Janus Kinase 2