Incidence and significance of the JAK2 V617F mutation in patients with chronic myeloproliferative disorders

S E Langabeer, F Ni Ainle, E Conneally, M Lawler, Mark Lawler

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

BACKGROUND: The chronic myeloproliferative disorders (MPD) are clonal haemopoietic stem cell disorders.

AIMS: The incidence of JAK2 V617F mutation was sought in a population of patients with MPD.

METHODS: The JAK2 V617 mutation status was determined in 79 patients with known MPD and 59 patients with features suggestive of MPD.

RESULTS: The mutation was found in patients with polycythaemia vera, essential thrombocythaemia, idiopathic myelofibrosis and in patients with other chronic myeloproliferative disorders. Eight JAK2 V617F positive cases were identified amongst those patients with features suggestive of MPD.

CONCLUSIONS: The incidence of the JAK2 V617F mutation in MPD patients is similar to that reported by other groups. The assay confirmed and refined the diagnosis of several patients with features indicative of MPD. We suggest screening for this mutation in all patients with known and suspected MPD as identification is valuable in classification and is a potential target for signal transduction therapy.

Original languageEnglish
Pages (from-to)105-9
Number of pages5
JournalIrish journal of medical science
Volume176
Issue number2
DOIs
Publication statusPublished - 19 Apr 2007

Keywords

  • Chronic Disease
  • Humans
  • Janus Kinase 2
  • Mutation
  • Myeloproliferative Disorders
  • Polycythemia Vera
  • Polymerase Chain Reaction
  • Primary Myelofibrosis
  • Thrombocythemia, Essential

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