Kuyaş HEKİMLER ÖZTÜRK, Muhammet Yusuf TEPEBAŞI, Halil ÖZBAŞ, Pınar KOŞAR

POLİSİTEMİA VERA OLGULARINDA JAK2 V617F MUTASYON SIKLIĞI VE LABORATUVAR BULGULARI İLE İLİŞKİSİ

Amaç Polisitemia vera (PV) miyeloid hücrelerin klonal proliferasyonu ile karakterize klonal bir hastalıktır. Janus tirozin kinaz 2 (JAK2) geni V617F mutasyonunun hastalığın moleküler patogenezinin temelini oluşturduğu gösterilmiştir. Bu çalışmada PV’lı hastalarda JAK2 V617F mutasyon sıklığı ve hematolojik parametreler ile arasındaki ilişkinin incelenmesi amaçlanmıştır. Gereç ve Yöntem Bu retrospektif kohort çalışmasına BCR-ABL negatif PV tanılı 18’i kadın, 60'ı erkek olmak üzere toplam 78 hasta dahil edildi. Hastalara ait poliklinik dosyaları incelenerek demografik özellikler, laboratuvar bulguları ve JAK2 V617F mutasyon analiz sonuçları kaydedildi. JAK2 V617F mutasyon analizleri Real-Time PCR yöntemi ile yapıldı. Bulgular Çalışmaya dahil edilen 78 PV hastasının 21’inde (%26,9) JAK2 V617F mutasyonu saptandı. Mutasyon varlığı ve cinsiyet arasında fark saptanmadı (p>0.05). Mutasyon pozitifliğine göre yapılan gruplandırmada JAK2 V617F mutasyonu taşıyan hastalarda yaş, RBC, RDW ve PLT seviyeleri açısından anlamlı derecede yüksek saptanırken (sırasıyla, p=0,000; p=0,030; p=0,028; p=0,029), serum demir düzeyi açısından anlamlı derecede düşük saptandı (p=0,036) . WBC, HB ve HCT seviyeleri her iki grupta benzerdi (p>0,05). Sonuç Mutasyonun prognostik değerini ve klinik ve laboratuvar değişkenleriyle ilişkisini göstermek için daha kapsamlı prospektif çalışmalara ihtiyaç vardır.

Anahtar Kelimeler:

Miyeloproliferatif bozukluklar, polisitemia vera, JAK2 V617F

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

Objective Polycythemia vera (PV) is a clonal disease characterized by clonal proliferation of myeloid cells. It has been shown that the Janus tyrosine kinase 2 (JAK2) gene V617F mutation forms the basis of the molecular pathogenesis of the disease. In this study, it was aimed to examine the relationship between JAK2 V617F mutation frequency and hematological parameters in patients with PV. Material and Methods A total of 78 patients, 18 female and 60 male, with PV were included in this retrospective cohort study. Demographic characteristics, laboratory findings and JAK2 V617F mutation analysis results were recorded by examining the outpatient clinic files of the patients. JAK2 V617F mutation analyzes were performed by Real-Time PCR method. Results JAK2 V617F mutation was detected in 21 (26.9%) of 78 PV patients included in the study. There was no difference between the presence of mutation and gender (p>0.05). In the grouping made according to mutation positivity, while age, RBC, RDW and PLT levels were found to be significantly higher in patients with JAK2 V617F mutation (respectively, p=0.000; p=0.030; p=0.028; p=0.029), serum iron level was found to be significantly lower. (p=0.036). WBC, HB and HCT levels were similar in both groups (p>0.05). Conclusion More comprehensive prospective studies are needed to demonstrate the prognostic value of the mutation and its relationship with clinical and laboratory variables.

Keywords:

Myeloproliferative disorders, polycythemia vera, JAK2 V617F,

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