Incidence of the JAK2V617F Mutation in Chronic Myeloproliferative Disorders

Öz

Aim: To determine the frequency of JAK2V617F mutation in BCR/ABL negative chronic myeloproliferative disease (CMD) in the Midle Black Sea region of Turkey, and the effects of this mutation on clinical course of the disease. Method: The study was conducted with 52 patients diagnosed to CMD: twenty-eight polycythemia vera, twenty-one essential thrombocythemia, and three primer myelofibrosis. Age, gender, hemoglobin, hematocrit, platelet and leukocyte values were recorded. The presence of hepatomegaly, splenomegaly, hemorrhage and thrombosis were evaluated.JAK2V617F mutation analyzes were evaluated from the peripheral blood granulocytes by Real Time-PCR Melting Curve. Results: The frequency of JAK2V617F mutation in polycythemia vera, essential thrombocythemia, and primer myelofibrosis were 86% (24/28), 48 (10/21) and 33% (1/3), respectively. There was no significant difference between JAK2V617F mutation and CMD onset age (p>0.05). When the patients divided according to the presence of JAK2V617F mutation, there were higher average level of leukocyte, hemoglobin and hematocrit values in patients with the mutation in polycythemia vera and essential thrombocythemia, but the difference was not statistically significant (p>0.05). The incidence of hepatomegaly were higher in JAK2V617F mutation positive polycythemia vera patients (p=0.030). Average platelet count at diagnosis in essential thrombocythemia patients with JAK2V617F mutation was lower, however, this difference was not statistically significant (p=0.397). Conclusion: The discovery of JAK2V617F mutation provided new information about the molecular basis of BCR/ABL negative CMD. The presence of this mutation affects the clinical features of CMD. In our knowledge, the present study is the first to evaluate the frequency of JAK2V617F mutation on CMD patients in our region, and our results are in concordance with the literature. Further studies with large cohort will be necessitated to better elucidate the effect of JAK2V617F mutation on CMD and confirm these findings.

Anahtar Kelimeler

• JAK2V617F mutation, polycythemia vera, essential thrombocythemia, primer myelofibrosis, chronic myeloproliferative disorders

Kronik Miyeloproliferatif Hastalıklarda JAK2V617F Mutasyon Sıklığı

Öz

Amaç: Orta Karadeniz Bölgesi’nde BCR/ABL negatif kronik miyeloproliferatif hastalık (KMH) tanısıyla takip edilen olguların JAK2V617F mutasyon sıklığı ve bu mutasyonun hastalığın klinik özelliklerine etkisi açısından incelenmesi amaçlanmıştır. Gereç ve Yöntem: Çalışmaya kronik miyeloproliferatif hastalık tanısı konulan 52 olgu (28 polistemia vera, 21 esansiyel trombositoz, 3 primer miyelofibrozis) dahil edildi. Hastaların tanı anındaki yaş, cinsiyet, hemoglobin, hematokrit, trombosit ve lökosit değerleri kaydedildi. Hepatomegali, splenomegali, kanama ve tromboz varlığı değerlendirildi. JAK2V617F mutasyon analizi hastaların periferik kan granülositlerinden Real Time-PCR Melting Curve analizi ile yapıldı. Bulgular: JAK2V617F mutasyon sıklığı polistemia vera, esansiyel trombositoz ve primer miyelofibrozis hastalarında sırası ile %85,7 (24/28), %47,6 (10/21) ve %33,3 (1/3) idi. Tanı yaşı ile JAK2V617F mutasyonu arasında istatistiksel olarak anlamlı ilişki tespit edilmedi (p>0,05). JAK2V617F mutasyonu varlığına göre hastalar incelendiğinde polistemia vera ve esansiyel trombositozlu hastalarda mutasyon olanlarda daha yüksek lökosit, hemoglobin ve hematokrit değerleri ile tromboz görülme oranı elde edilmiş olup, aradaki fark istatistiksel olarak anlamlı değildi (p>0,05). JAK2V617F mutasyonu olan polistemia vera hastalarında hepatomegali daha fazla görülmekte idi (p=0,030). JAK2V617F mutasyonu olan esansiyel trombositoz hastalarında tanı anında trombosit sayısı daha düşüktü, fakat aradaki fark istatistiksel olarak anlamlı değildi (p=0,397). Sonuç: JAK2V617F mutasyonun keşfi ile BCR/ABL negatif KMH’ın moleküler temeline ait bilgiler sunmaktadır. Bu mutasyonun varlığı KMH’ın klinik özelliklerini etkilemektedir. Bu çalışma bölgemizde KMH olgularında JAK2V617F mutasyonu sıklığının değerlendirildiği ilk çalışma olup, bulgularımız literatür verileri ile uyumlu bulunmuştur. JAK2V617F mutasyonunun KMH üzerine etkisinin daha iyi anlaşılabilmesi için büyük olgu sayılarını içeren çalışmalara ihtiyaç vardır.

Anahtar Kelimeler

• JAK2V617F mutasyonu, polistemia vera, esansiyel trombositoz, primer miyelofibrozis, kronik miyeloproliferatif hastalıklar

Kaynakça

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