Mehmet Erdem ALAGÜNEY, Funda CERAN, Mesude FALAY YILMAZ, Simten DAĞDAŞ, Gülsüm ÖZET

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

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.

Anahtar Kelimeler:

esansiyel trombositoz, JAK2 - V617F mutasyonu, tromboz

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

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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