Molecular Biology Reports

, Volume 39, Issue 9, pp 8663–8667

Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and polycythemia vera

Authors

    • Department of Medical GeneticsUludag University School of Medicine
  • Tahsin Yakut
    • Department of Medical GeneticsUludag University School of Medicine
  • Vildan Ozkocaman
    • Division of Hematology, Department of Internal MedicineUludag University School of Medicine
  • Fahir Ozkalemkas
    • Division of Hematology, Department of Internal MedicineUludag University School of Medicine
  • Ridvan Ali
    • Division of Hematology, Department of Internal MedicineUludag University School of Medicine
  • Murat Bayram
    • Department of Internal MedicineUludag University School of Medicine
  • Orhan Gorukmez
    • Department of Medical GeneticsUludag University School of Medicine
  • Gokhan Ocakoglu
    • Department of BiostatisticsUludag University School of Medicine
Article

DOI: 10.1007/s11033-012-1721-x

Cite this article as:
Karkucak, M., Yakut, T., Ozkocaman, V. et al. Mol Biol Rep (2012) 39: 8663. doi:10.1007/s11033-012-1721-x

Abstract

An activating mutation of Janus kinase 2 (JAK2-V617F) was previously described in chronic myeloproliferative disorders (MPD). In previously published studies, the frequency of the JAK2-V617F mutation was determined to be 80–90 % for patients with polycythemia vera (PV) and 40–70 % for essential thrombocythemia (ET). In this study, we analyzed the relationship between the JAK2-V617F mutation and clinical-hematological parameters in Turkish patients with MPD and compared these findings with published studies from other geographic regions. A total of 148 patients were studied; of which, 70 were diagnosed with PV and 78 with ET. The mutation status of JAK2 was determined using a tetra-primer polymerase chain reaction. We found that 80 % of the PV group and 42 % of the ET group were positive for the JAK2-V617F mutation. When all patients were analyzed, the levels of white blood cells, hemoglobin and splenomegaly were significantly different in patients with the JAK2-V617F mutation (p < 0.05). To our knowledge, this study is the first to evaluate the relationship between MPD and JAK2-V617F in Turkish patients. The JAK2-V617F mutation is frequently detected in the Turkish patients with MPD, and especially in patients with PV. Hence, it would be useful to include JAK2 mutation screening in the initial evaluation of patients suspected to have MPD.

Keywords

JAK2Essential thrombocythemiaPolycythemia vera

Copyright information

© Springer Science+Business Media B.V. 2012