sdü tıp fak derg Medical Journal of Süleyman Demirel University 2602-2109 Süleyman Demirel Üniversitesi 10.17343/sdutfd.978526 Clinical Sciences Klinik Tıp Bilimleri POLİSİTEMİA VERA OLGULARINDA JAK2 V617F MUTASYON SIKLIĞI VE LABORATUVAR BULGULARI İLE İLİŞKİSİ JAK2 V617F MUTATION FREQUENCY IN POLYCYTHEMIA VERA CASES AND ITS RELATIONSHIP WITH LABORATORY FINDINGS https://orcid.org/0000-0002-7075-8875 Hekimler Öztürk Kuyaş SÜLEYMAN DEMİREL ÜNİVERSİTESİ https://orcid.org/0000-0002-1087-4874 Tepebaşı Muhammet Yusuf SULEYMAN DEMIREL UNIVERSITY https://orcid.org/0000-0002-7561-1450 Özbaş Halil SULEYMAN DEMIREL UNIVERSITY https://orcid.org/0000-0003-2602-5145 Koşar Pınar SÜLEYMAN DEMİREL ÜNİVERSİTESİ 12 30 2021 28 4 573 577 08 04 2021 08 31 2021 Copyright © 1994, Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi 1994 Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi

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.

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.

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