The Frequency of JAK2 V617F Mutation in Patients with Chronic Myeloproliferative Disease

Year 2019, , 492 - 495, 25.12.2019

Özlem Öz

https://doi.org/10.35440/hutfd.645383

Cited By: 2

Abstract

Background: Chronic
myeloproliferative diseases are characterized by excessive proliferation of
blood cell lines, the most common of which are polycythemia vera (PV),
essential thrombocythemia (ET) and primary myelofibrosis (PMF), usually JAK2
(Janus kinase 2), CALR (calreticulin) and MPL (myeloproliferative leukemia)
genes occur as a result of specific somatic mutations. The aim of this study
was to determine the frequency of JAK2 V617F mutation in PV, ET and PMF
patients who applied to the genetic polyclinic due to polycythemia and to
compare these results with the literature data.

Methods: The laboratory
results of 267 patients who presented with polycythemia between February
2017-February 2019 and tested JAK2 V617F mutation analysis were retrospectively
reviewed. The patients were divided into three groups as PV, ET and PMF. The
frequency of JAK2 V617F mutation and demographic data were recorded in each
group.

Results: Of 267 patients
included in the study, 235 (88%) had PV, 31 (11.6%) had ET and 1 (0.4%) had
PMF. JAK2 V617F mutation positivity was detected in 8.5% of PV patients and
9.7% of ET patients. The JAK2 V617F mutation was significantly higher in Syrian
patients than in Turkish patients when compared to those of origin (p
<0.05).

Conclusions: In
this study, a significant difference was found between Turkish and Syrian
citizens in terms of JAK2 V617F mutation. This suggests that the JAK2 V617F
mutation may differ by origin. In addition, this study is important because it
is the first study to evaluate the frequency of JAK2 V617F mutation in
Şanlıurfa.

Kronik Miyeloproliferatif Hastalık Olgularında JAK2 V617F Mutasyon Sıklığı

Abstract

Amaç: Kronik miyeloproliferatif
hastalıklar kan hücre serilerinin aşırı proliferasyonu ile karakterize olup bu
hastalıklardan sıklıkla görülen polisitemiavera (PV), esansiyeltrombositemi
(ET) ve primermiyelofibrozis (PMF) genellikle JAK2 (Januskinaz 2), CALR
(calreticulin) ve MPL (myeloproliferativeleukemia) genlerinde spesifik somatik
mutasyonlar sonucu ortaya çıkmaktadır. Bu çalışmada polisitemi nedeniyle
genetik polikliniğine başvuran PV, ET ve PMF hastalarında JAK2 V617F mutasyon
sıklığının hastalık gruplarına göre tespiti ve elde edilen bu sonuçların
literatür verileri ile karşılaştırılması amaçlanmıştır.

Materyal ve Metod: Şubat
2017-Şubat 2019 tarihleri arasında polisitemi nedeniyle başvuran ve JAK2 V617F
mutasyon analizi yapılan 267 hastanın laboratuvar sonuçları retrospektif olarak
incelendi. Hastalar PV, ET ve PMF tanısı alanlar olmak üzere 3 gruba ayrıldı.
Her grupta JAK2 V617F mutasyon sıklığı ve hastaların demografik verileri
kaydedildi.

Bulgular: Çalışmaya
alınan toplam 267 hastanın 235’inde (%88) PV, 31’inde (%11,6) ET ve 1 hastada
(%0,4) PMF tanısı vardı. JAK2 V617F mutasyon pozitifliği PV hasta grubunun
%8,5’nde, ET hasta grubunun %9,7’sinde saptandı. JAK2 V617F mutasyonu gözlenme
durumu kökenlere göre karşılaştırıldığında Suriye’li hastalarda Türk hastalara
kıyasla anlamlı olarak daha yüksekti (p <0.05).

Sonuç: Bizim
çalışmamızda Türk ve Suriye vatandaşları arasında JAK2 V617F mutasyonu
açısından anlamlı farklılık tespit edildi. Bu durum JAK2 V617F mutasyonunun
kökenlere göre farklılık gösterebileceğini göstermektedir. Ayrıca bu çalışma
Şanlıurfa ilinde JAK2 V617F mutasyon sıklığının değerlendirildiği ilk çalışma
olması nedeniyle önem arz etmektedir.

Keywords

JAK2 V617F mutasyonu, polisitemi, polistemia vera, esansiyel trombositemi, primer miyelofibrozis

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