Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: Chronology of clonal emergence and changes in mutant allele burden over time Academic Article uri icon

Overview

MeSH Major

  • Janus Kinase 2
  • Mutation
  • Primary Myelofibrosis
  • Receptors, Thrombopoietin

abstract

  • 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.

publication date

  • December 2006

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1111/j.1365-2141.2006.06348.x

PubMed ID

  • 17107350

Additional Document Info

start page

  • 683

end page

  • 7

volume

  • 135

number

  • 5