Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time

Br J Haematol. 2006 Dec;135(5):683-7. doi: 10.1111/j.1365-2141.2006.06348.x.


MPLW515L/K and JAK2V617F can co-exist in myelofibrosis with myeloid metaplasia (MMM). The chronology of clonal emergence was studied in three such cases using serially stored bone marrow. At diagnosis, a major MPL515 mutant clone was accompanied by a minor JAK2V617F clone in all three instances. At 25 time points over a period of 4-8 years, allele burden fluctuated but remained high for MPLW515L/K and low for JAK2V617F. We conclude that MPLW515L/K and JAK2V617F are both early events in MMM and allele burden, rather than the mere presence of these mutations, might be relevant to phenotypic variation in myeloproliferative disorders.

MeSH terms

  • Alleles
  • Bone Marrow Cells
  • Chromatography
  • Clone Cells
  • DNA / analysis
  • Gene Frequency
  • Granulocytes
  • Humans
  • Janus Kinase 2 / genetics*
  • Mutation*
  • Primary Myelofibrosis / genetics*
  • Receptors, Thrombopoietin / genetics*
  • Thrombocytosis / genetics
  • Time


  • Receptors, Thrombopoietin
  • MPL protein, human
  • DNA
  • JAK2 protein, human
  • Janus Kinase 2