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

Yıl 2021, Cilt: 28 Sayı: 4, 573 - 577, 30.12.2021

Kuyaş Hekimler Öztürk Muhammet Yusuf Tepebaşı Halil Özbaş Pınar Koşar

https://doi.org/10.17343/sdutfd.978526

Öz

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

Öz

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.

Anahtar Kelimeler

Myeloproliferative disorders, polycythemia vera, JAK2 V617F

Kaynakça

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