Mutation screening for JAK2V617F: When to order the test and how to interpret the results

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31 Scopus citations


With the application of adequately sensitive tests, it is now becoming evident that more than 90% of patients with conventionally-defined polycythemia vera (PV) carry the somatic JAK2V617F mutation in their granulocytes. However, the specific mutation is also found in other classic and atypical myeloproliferative disorders (MPD), albeit at a lesser frequency. In contrast, JAK2V617F has not been reported in patients with either reactive myeloproliferation or lymphoid disorders. Therefore, mutation screening for JAK2V617F can be considered as a myeloid-specific clonality assay and it is diagnostically most useful in the evaluation of "polycythemia".

Original languageEnglish (US)
Pages (from-to)739-744
Number of pages6
JournalLeukemia Research
Issue number6
StatePublished - Jun 2006


  • Diagnosis
  • JAK2 mutation
  • Polycythemia
  • Thrombocytosis

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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