Haematologica, Vol 94, Issue 3, 414-418 doi:10.3324/haematol.13223
Copyright © 2009 by Ferrata Storti Foundation
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Brief Reports

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

Susanne Schnittger1, Ulrike Bacher2, Claudia Haferlach1, Thomas Geer3, Peter Müller4, Johann Mittermüller5, Petro Petrides6, Rudolf Schlag7, Reiner Sandner8, Johannes Selbach9, Hans Rainer Slawik10, Hans Werner Tessen11, Jürgen Wehmeyer12, Wolfgang Kern1, Torsten Haferlach1

1 MLL, Munich Leukemia Laboratory, Munich;
2 Interdisciplinary Clinic for Stem Cell Transplantation, University of Hamburg, Hamburg-Eppendorf;
3 Diakonie-Krankenhaus Schwäbisch Hall, Schwäbisch Hall;
4 Kreiskliniken Günzburg-Krumbach, Günzburg;
5 Hematology Practice Germering, Germering;
6 Hematology & Oncology Practice, München;
7 Hematology Practice, Würzburg;
8 Hematology Practice, Passau;
9 Hematology & Oncology Practice, Duisburg;
10 Hematology & Oncology Practice, Ev. Diakonissenkrankenhaus;
11 Hematology & Oncology Practice and
12 Hematology & Oncology Practice, Münster, Germany

Correspondence: Susanne Schnittger, PhD, MLL, Munich Leukemia Laboratory, Max-Lebsche-Platz 31, 81377 Munich, Germany. E-mail:susanne.schnittger{at}mll-online.com

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.

Key words: JAK2 exon 12, PV, erythrocytosis, V617.