Haematologica (Mar 2009)

Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera

  • Susanne Schnittger,
  • Ulrike Bacher,
  • Claudia Haferlach,
  • Thomas Geer,
  • Peter Müller,
  • Johann Mittermüller,
  • Petro Petrides,
  • Rudolf Schlag,
  • Reiner Sandner,
  • Johannes Selbach,
  • Hans Rainer Slawik,
  • Hans Werner Tessen,
  • Jürgen Wehmeyer,
  • Wolfgang Kern,
  • Torsten Haferlach

DOI
https://doi.org/10.3324/haematol.13223
Journal volume & issue
Vol. 94, no. 3

Abstract

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To further characterize JAK2 exon 12 mutations, we performed molecular screening in 409 patients with polycythemia vera or unclear erythrocytosis with unmutated JAK2V617. The frequency of JAK2exon12 mutations was 10/63 (15.9%) in PV but only 5/346 (1.4%) in the erythrocytosis cases. Nine different mutations including four new types (D544-L545del, H538DK539LI540S, H538-K539del, V536-F547dup) were detected. In 2 cases we found evidence for the presence of cells homozygous for mutated JAK2exon12. As this was the case in only 2/15 cases with JAK2exon12 mutations (13%) homozygosity seemed to be less frequent than in V617F-mutated polycythemia vera (69%) (p