Esansiyel Trombositemi Hastalarında JAK2-V617F Mutasyonu ile Klinik Sonlanım Belirteçleri Arasındaki Ilişki

Year 2019, Volume: 41 Issue: 1, 81 - 86, 01.01.2019

Mehmet Erdem Alagüney , Funda Ceran Mesude Falay Simten Dağdaş Gülsüm Özet

https://doi.org/10.20515/otd.416890

Abstract

Esansiyel
Trombositoz (ET)’da JAK2-
V617F mutasyonunun klinik önemi halen belirsizdir. Bununla beraber, lökositoz,
anemi, trombositoz, ileri yaş, splenomegali varlığı tromboz, hemoraji, yaşam
süresinde kısalma gibi olumsuz klinik sonlanımlarla ilişkilendirilmektedir. Bu
nedenle, çalışmamızda JAK2 mutasyonu ile olumsuz klinik sonlanım gösteren
parametrelerin ilişkisini araştırdık. Böylece JAK2 mutasyonunun bu
parametrelerle ilişkisinin saptanması prognostik önemi konusunda bilgi
verebilir.
Bu retrospektif, kesitsel çalışma
2013 yılında Ankara Numune Eğitim Araştırma Hastanesi’nin Hematoloji kliniği
arşivlerinde dosya taraması ile gerçekleştirilmiştir. ET tanısı alan ve
dosyasında JAK2 mutasyon analizi sonucu bulunan tüm vakalar çalışmaya dahil
edilmiştir. ET tanısı Dünya Sağlık Örgütü (DSÖ) ET için Tanı Kriterleri’ne göre
konulmuştur. Demografik bilgiler, tam kan sayımı, abdominal ultrason sonuçları,
JAK2 mutasyon analizi sonuçları 84 hasta için toplanmıştır. JAK2 mutasyonu ile
yaş, cinsiyet, hemoglobin düzeyi, lökosit sayısı, trombosit sayısı ve
splenomegali varlığı arasındaki ilişki uygun istatistiksel yöntemler
kullanılarak araştırılmıştır.Hastaların yüzde 54,7’sinde JAK2 mutasyonu pozitif
saptanmıştır. JAK2 pozitifliği olan hastaların lökosit sayıları daha yüksek (p <0.001), hemoglobin
düzeyleri daha yüksek (p = 0.014) saptanmıştır ve splenomegali bu hastalarda
daha sık görülmüştür (p <0.001). JAK2 mutasyonu ile yaş, cinsiyet, trombosit
sayıları ve anemi durumu arasında istatistiksel anlamlı ilişki saptanmamıştır.
JAK2 mutasyonu trombotik risk faktörü olarak bilinen lökositoz ve splenomegali
ile ilişkili bulunmuştur. Bu durum JAK2 mutasyonunun prognostik değeri
olabileceğini göstermektedir. 

Keywords

esansiyel trombositoz, JAK2 - V617F mutasyonu, tromboz

The Relationship Between the JAK2-V617F Mutation Status and Predictors of Clinical Outcomes in Patients with Essential Thrombocythemia

Abstract

The prognostic value of JAK2 - V617F mutation
remains unclear in essential thrombocythemia (ET). However, leukocytosis,
anemia, thrombocytosis, advanced age, and splenomegaly are all associated with
poor clinical outcomes, such as thrombosis, hemorrhage, and short life
expectancy. JAK2 mutation may be related to these parameters and may
establish prognostic value in this regard. Therefore, we investigated the
relationship between JAK2 mutation
and these predictors of poor prognosis. This
retrospective, cross-sectional study is
conducted in archives of a Hematology Clinic in an Education Hospital at
2013. All patients who have been
diagnosed with ET and have JAK2 mutation
analysis results, are included to the study. Diagnosis of ET was made according
to the World Health Organization (WHO) Diagnostic Criteria for ET. Demographic
characteristics, complete blood counts, abdominal ultrasounds and JAK2 mutation analyses are collected
from patient files for 84 patients. The relationship between JAK2 mutation and age, sex, hemoglobin,
leukocyte, thrombocyte counts, and splenomegaly is analyzed by using
appropriate statistical analysis. In
total, 54.7% of patients with ET tested positive for the JAK2 mutation. Patients with JAK2 mutation had higher leukocyte
levels (p < 0.001), higher hemoglobin
levels (p = 0.014), and splenomegaly (p < 0.001). There was no
relationship between JAK2 mutation
and age, sex, thrombocyte counts or anemia. The JAK2
mutation is related to leukocytosis and splenomegaly, which are known to be
thrombotic risk factors. Therefore, JAK2
mutation may have a prognostic value and warrants further research with
clinical outcomes.

Keywords

essential thrombocythemia, JAK2 - V617F mutation, thrombosis

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