JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia

Korean J Lab Med. 2010 Oct;30(5):474-6. doi: 10.3343/kjlm.2010.30.5.474.

Abstract

JAK2 V617F and MPL W515L/K mutations have been reported in approximately 50% and 5% of the patients with essential thrombocythemia (ET), respectively. We investigated the frequency of MPL W515L/K mutations in a series of consecutive patients with ET and post-essential thrombocythemia myelofibrosis (post-ET MF). The study subjects were 63 patients diagnosed either with ET (N=59) or post-ET MF (N=4) at our institution between June 2006 and February 2010. Among them, 35 (55.6%) had the JAK2 V617F mutation. MPL W515L/K mutations were detected by direct sequencing analyses of exon 10, and 2 patients were found to harbor the following MPL mutations: W515L in 1 patient with ET and W515K in 1 patient with post-ET MF. Neither of the patients had the JAK2 V617F mutation. Thus, the frequency of MPL W515L/K mutation in Korean patients with ET/post-ETMF was 3.2% (2/63) and that in JAK2 V617F-negative ET/post-ET MF was 7.1% (2/28) [corrected]. This is the first study to report the frequency of JAK2 V617F and MPL W515L/K mutations in Korean patients with ET/post-ET MF.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amino Acid Substitution
  • Asian People / genetics*
  • Exons
  • Female
  • Humans
  • Janus Kinase 2 / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Polycythemia Vera / genetics
  • Receptors, Thrombopoietin / genetics*
  • Republic of Korea
  • Sequence Analysis, DNA
  • Thrombocythemia, Essential / diagnosis
  • Thrombocythemia, Essential / genetics*

Substances

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