Molecular Biology Reports

, Volume 39, Issue 9, pp 8663–8667 | Cite as

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

  • Mutlu Karkucak
  • Tahsin Yakut
  • Vildan Ozkocaman
  • Fahir Ozkalemkas
  • Ridvan Ali
  • Murat Bayram
  • Orhan Gorukmez
  • Gokhan Ocakoglu
Article

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

JAK2 Essential thrombocythemia Polycythemia vera 

References

  1. 1.
    Dameshek W (1951) Some speculations on the myeloproliferative syndromes. Blood 6:372–375PubMedGoogle Scholar
  2. 2.
    Lieu CH, Wu HS, Hon YC et al (2008) Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myeloproliferative disorders. Intern Med J. 38:422–426CrossRefPubMedGoogle Scholar
  3. 3.
    Vardiman JW, Harris NL, Brunning RD (2002) The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 100:2292–2302CrossRefPubMedGoogle Scholar
  4. 4.
    James C, Ugo V, LeCouedic JP et al (2005) A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature 434:1144–1148CrossRefPubMedGoogle Scholar
  5. 5.
    Levine RL, Wadleigh M, Cools J et al (2005) Activating mutation of the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7:387–397CrossRefPubMedGoogle Scholar
  6. 6.
    Kralovics R, Passamonti F, Buser AS et al (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352:1779–1790CrossRefPubMedGoogle Scholar
  7. 7.
    Baxter EJ, Scott LM, Campbell PJ et al (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative diseases. Lancet 365:1054–1061CrossRefPubMedGoogle Scholar
  8. 8.
    Er TK, Lin SF, Chang JG et al (2009) Detection of the JAK2 V617F missense mutation by high resolution melting analysis and its validation. Clin Chim Acta 408:39–44CrossRefPubMedGoogle Scholar
  9. 9.
    Campbell PJ, Green AR (2006) The myeloproliferative disorders. N Engl J Med 355:2452–2466CrossRefPubMedGoogle Scholar
  10. 10.
    Jones AV, Kreil S, Zoi K et al (2005) Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 106:2162–2168CrossRefPubMedGoogle Scholar
  11. 11.
    Campbell PJ, Scott LM, Buck G et al (2005) Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 366:1945–1953CrossRefPubMedGoogle Scholar
  12. 12.
    Antonioli E, Guglielmelli P, Pancrazzi A et al (2005) Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia 19:1847–1849CrossRefPubMedGoogle Scholar
  13. 13.
    Wadleigh M, Tefferi A (2010) Classification and diagnosis of myeloproliferative neoplasms according to the 2008 World Health Organization criteria. Int J Hematol 91:174–179CrossRefPubMedGoogle Scholar
  14. 14.
    Koksal V, Etlik O, Arican-Baris ST, Baris I (2007) A tetra-primer polymerase chain reaction approach for the detection of JAK2 V617F mutation. Genet Test 11:463–466CrossRefPubMedGoogle Scholar
  15. 15.
    Langabeer SE, Ni Ainle F, Conneally E, Lawler M (2007) Incidence and significance of the JAK2 V617F mutation in patients with chronic myeloproliferative disorders. Ir J Med Sci 176:105–109CrossRefPubMedGoogle Scholar
  16. 16.
    Shen YM, Chao HY, Zhang R et al (2009) Quantitative assay for Janus kinase 2 (JAK2) mutation in Chinese patients with chronic myeloproliferative disorders. J Int Med Res 37:37–46CrossRefPubMedGoogle Scholar
  17. 17.
    Basquiera AL, Soria NW, Ryser R et al (2009) Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative disorders. Hematology 2009(14):323–330CrossRefGoogle Scholar
  18. 18.
    Zhao R, Xing S, Li Z, Li Q, Krantz SB, Zhao ZJ (2005) Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem 280:22788–22792CrossRefPubMedPubMedCentralGoogle Scholar
  19. 19.
    Benmoussa A, Dehbi H, Fehri S, Quessar A, Nadifi S (2011) JAK2-V617F mutation in Moroccan patients with myeloproliferative disorders: contribution, diagnosis and therapeutic prospects. Pathol Biol. 59:e89–e92CrossRefPubMedGoogle Scholar
  20. 20.
    Zhang SJ, Li WD, Song JH, Xu W, Qiu HX, Li JY (2007) The investigation of JAK2 V617F point mutation in myeloproliferative disorders by allele-specific polymerase chain reaction in combination with sequence analysis. Zhonghua Yi Xue Za Zhi 87:2109–2112PubMedGoogle Scholar
  21. 21.
    Wong GC, Kam GL, Koay ES (2010). JAK2 mutations in Asian patients with essential thrombocythaemia. Intern Med J. doi: 10.1111/j.1445-5994.2010.02199.x
  22. 22.
    Tefferi A, Lasho TL, Schwager SM et al (2006) The clinical phenotype of wild-type, heterozygous, and homozygous JAK2 V617F in polycythemia vera. Cancer 106:631–636CrossRefPubMedGoogle Scholar
  23. 23.
    Jelinek J, Oki Y, Gharibyan V, Bueso-Ramos C, Prehal JT, Verstovsek S (2005) JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Phledelphia chromosome negative CML, and megakaryocytic leukemia. Blood 106:3370–3373CrossRefPubMedPubMedCentralGoogle Scholar
  24. 24.
    Moliterno AR, Donna MW, Ophelia R, Spivak JL (2006) Moleculer mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2 V617F and Mpl expression. Blood 108:3913–3915CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  • Mutlu Karkucak
    • 1
  • Tahsin Yakut
    • 1
  • Vildan Ozkocaman
    • 2
  • Fahir Ozkalemkas
    • 2
  • Ridvan Ali
    • 2
  • Murat Bayram
    • 3
  • Orhan Gorukmez
    • 1
  • Gokhan Ocakoglu
    • 4
  1. 1.Department of Medical GeneticsUludag University School of MedicineBursaTurkey
  2. 2.Division of Hematology, Department of Internal MedicineUludag University School of MedicineBursaTurkey
  3. 3.Department of Internal MedicineUludag University School of MedicineBursaTurkey
  4. 4.Department of BiostatisticsUludag University School of MedicineBursaTurkey

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