DSpace Repository

JAK2 V617F MUTATION FREQUENCY IN POLYCYTHEMIA VERA CASES AND ITS RELATIONSHIP WITH LABORATORY FINDINGS

Show simple item record

dc.creator HEKİMLER ÖZTÜRK, Kuyaş; SÜLEYMAN DEMİREL ÜNİVERSİTESİ
dc.creator TEPEBAŞI, Muhammet Yusuf; SULEYMAN DEMIREL UNIVERSITY
dc.creator ÖZBAŞ, Halil; SULEYMAN DEMIREL UNIVERSITY
dc.creator KOŞAR, Pınar; SÜLEYMAN DEMİREL ÜNİVERSİTESİ
dc.date 2021-12-30T00:00:00Z
dc.date.accessioned 2022-05-10T10:58:59Z
dc.date.available 2022-05-10T10:58:59Z
dc.identifier https://dergipark.org.tr/tr/pub/sdutfd/issue/67913/978526
dc.identifier 10.17343/sdutfd.978526
dc.identifier.uri http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/96227
dc.description ObjectivePolycythemia vera (PV) is a clonal diseasecharacterized by clonal proliferation of myeloid cells.It has been shown that the Janus tyrosine kinase 2(JAK2) gene V617F mutation forms the basis of themolecular pathogenesis of the disease. In this study,it was aimed to examine the relationship betweenJAK2 V617F mutation frequency and hematologicalparameters in patients with PV.Material and MethodsA total of 78 patients, 18 female and 60 male, withPV were included in this retrospective cohort study.Demographic characteristics, laboratory findings andJAK2 V617F mutation analysis results were recordedby examining the outpatient clinic files of the patients.JAK2 V617F mutation analyzes were performed byReal-Time PCR method.ResultsJAK2 V617F mutation was detected in 21 (26.9%)of 78 PV patients included in the study. There wasno difference between the presence of mutation andgender (p>0.05). In the grouping made according tomutation positivity, while age, RBC, RDW and PLTlevels were found to be significantly higher in patientswith JAK2 V617F mutation (respectively, p=0.000;p=0.030; p=0.028; p=0.029), serum iron level wasfound to be significantly lower. (p=0.036). WBC, HBand HCT levels were similar in both groups (p>0.05).ConclusionMore comprehensive prospective studies are neededto demonstrate the prognostic value of the mutationand its relationship with clinical and laboratoryvariables.
dc.description AmaçPolisitemia vera (PV) miyeloid hücrelerin klonal proliferasyonuile karakterize klonal bir hastalıktır. Janustirozin kinaz 2 (JAK2) geni V617F mutasyonunun hastalığınmoleküler patogenezinin temelini oluşturduğugösterilmiştir. Bu çalışmada PV’lı hastalarda JAK2V617F mutasyon sıklığı ve hematolojik parametrelerile arasındaki ilişkinin incelenmesi amaçlanmıştır.Gereç ve YöntemBu retrospektif kohort çalışmasına BCR-ABL negatifPV tanılı 18’i kadın, 60'ı erkek olmak üzere toplam 78hasta dahil edildi. Hastalara ait poliklinik dosyaları incelenerekdemografik özellikler, laboratuvar bulgularıve JAK2 V617F mutasyon analiz sonuçları kaydedildi.JAK2 V617F mutasyon analizleri Real-Time PCRyöntemi ile yapıldı.BulgularÇalışmaya dahil edilen 78 PV hastasının 21’inde(%26,9) JAK2 V617F mutasyonu saptandı. Mutasyonvarlığı ve cinsiyet arasında fark saptanmadı (p>0.05).Mutasyon pozitifliğine göre yapılan gruplandırmadaJAK2 V617F mutasyonu taşıyan hastalarda yaş, RBC,RDW ve PLT seviyeleri açısından anlamlı derecedeyüksek saptanırken (sırasıyla, p=0,000; p=0,030;p=0,028; p=0,029), serum demir düzeyi açısındananlamlı derecede düşük saptandı (p=0,036) . WBC,HB ve HCT seviyeleri her iki grupta benzerdi (p>0,05).SonuçMutasyonun prognostik değerini ve klinik ve laboratuvardeğişkenleriyle ilişkisini göstermek için daha kapsamlıprospektif çalışmalara ihtiyaç vardır.
dc.format application/pdf
dc.language tr
dc.publisher Süleyman Demirel Üniversitesi
dc.publisher Süleyman Demirel University
dc.relation https://dergipark.org.tr/tr/download/article-file/1907872
dc.source Volume: 28, Issue: 4 573-577 en-US
dc.source 1300-7416
dc.source 2602-2109
dc.source SDÜ Tıp Fakültesi Dergisi
dc.subject Myeloproliferative disorders,polycythemia vera,JAK2 V617F
dc.subject Miyeloproliferatif bozukluklar,polisitemia vera,JAK2 V617F
dc.title JAK2 V617F MUTATION FREQUENCY IN POLYCYTHEMIA VERA CASES AND ITS RELATIONSHIP WITH LABORATORY FINDINGS en-US
dc.title POLİSİTEMİA VERA OLGULARINDA JAK2 V617F MUTASYON SIKLIĞI VE LABORATUVAR BULGULARI İLE İLİŞKİSİ tr-TR
dc.type info:eu-repo/semantics/article
dc.citation 1. Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106(6):2162-8.
dc.citation 2. Zhang S, Qiu H, Fischer BS, Li W, Duan L, Sun X, et al. JAK2 V617F patients with essential thrombocythemia present with clinical features of polycythemia vera. Leuk Lymphoma. 2008 Apr;49(4):696-9.
dc.citation 3. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352(17):1779-90.
dc.citation 4. Zhao S, Zhang X, Xu Y, Feng Y, Sheng W, Cen J, et al. Impact of JAK2 V617F Mutation Burden on Disease Phenotype in Chinese Patients with JAK2 V617F-positive Polycythemia Vera (PV) and Essential thrombocythemia (ET). Int J Med Sci 2016 ;13(1):85.
dc.citation 5. Geetha JP, Arathi CA, Shalini M, Srinivasa Murthy AG. JAK2 Negative Polycythemia Vera. J Lab Physicians. 2010;2(2):114-6.
dc.citation 6. Yönal İ, Sargın F. Polisitemia Vera: Patogenez, Teşhis Ve Tedavide Güncel Bilgiler. İstanbul Tıp Fakültesi Derg 2015;78(3):83–91.
dc.citation 7. Landolfi R, Nicolazzi MA, Porfidia A, Di Gennaro L. Polycythemia vera. Intern Emerg Med 2010;5(5):375–84.
dc.citation 8. Kaushansky K. The chronic myeloproliferative disorders and mutation of JAK2: Dameshek's 54 year old speculation comes of age. Best Pract Res Clin Haematol. 2007;20(1):5-12.
dc.citation 9. Nussenzveig RH, Swierczek SI, Jelinek J, Gaikwad A, Liu E, Verstovsek S, et al. Polycythemia vera is not initiated by JAK2V617F mutation. Exp Hematol. 2007 ;35(1):32.e1-32.e9.
dc.citation 10. Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA, et al. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel. Blood 2007;110(4):1092–7.
dc.citation 11. Zhang S, Qiu H, Fischer BS, Li W, Duan L, Sun X, et al. JAK2 V617F patients with essential thrombocythemia present with clinical features of polycythemia vera. Leuk Lymphoma. 2008;49(4):696-9.
dc.citation 12. Karkucak M, Yakut T, Ozkocaman V, Ozkalemkas F, Ali R, Bayram M, et al. Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and polycythemia vera. Mol Biol Reports 2012;39(9):8663–7.
dc.citation 13. Tefferi A, Lasho TL, Schwager SM, Strand JS, Elliott M, Mesa R, et al. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer 2006;106(3):631–5.
dc.citation 14. İlhan G, Karakuş S, Sahin IF. JAK 2V617F Mutation: Frequency and relation to clinical and laboratory features of BCR-ABL negative myeloproliferative diseases. Uluslararası Hematol Derg 2012;22(2):77–84.
dc.citation 15. Ünal K, Erdoğan S, Yılmaz FM. JAK 2 V617F gen mutasyon sıklığı ve tam kan sayımı parametreleri ile ilişkisi. Türk Biyokim Derg 2014;39(1):93–8.
dc.citation 16. Poopak B, Hagh MF, Saki N, Elahi F, Rezvani H, Khosravipour G, et al. JAK2 V617F mutation in Iranian patients with myeloproliferative neoplasms: clinical and laboratory findings. Turkish J Med Sci 2013;43(3):347–53.
dc.citation 17. Singdong R, Siriboonpiputtana T, Chareonsirisuthigul T, Kongruang A, Limsuwanachot N, Sirirat T, et al. Characterization and Prognosis Significance of JAK2 (V617F), MPL, and CALR Mutations in Philadelphia-Negative Myeloproliferative Neoplasms. Asian Pac J Cancer Prev 2016;17(10):4647.
dc.citation 18. Beutler E. Willams Hematology. 6th ed. New York: McGraw-Hill Medical Pub. Division; 2001. 1357–1408 p.


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

Search DSpace


Browse

My Account