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. 2009 Mar;94(3):414-8.
doi: 10.3324/haematol.13223.

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

Susanne Schnittger  1 , 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
Affiliations

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

Susanne Schnittger et al. Haematologica. 2009 Mar.

Abstract

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<0.001). There were more females than males in the group of patients with a JAK2exon12 mutation (10 vs. 5) compared to the group with wildtype JAK2 (132 vs. 262; p=0.012). Median age of onset was lower than in the V617Fmut controls (58.5 vs. 67.8 years, p<0.001). In conclusion, JAK2 exon 12 mutation analysis contributes to diagnostics in polycythemia vera or erythrocytosis.

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Figures

Figure 1.
Figure 1.
Limited dilution series of cDNA with an H538QK539L diluted in cDNA of a JAK2wt sample showing sensitivity of this assay of approximately 1:10.
See this image and copyright information in PMC

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