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Esansiyel Trombositoz Tanısıyla İzlenen Olgularda JAK-2 Gen Mutasyonu ve Komplikasyonlarla İlişkisi

JAK-2 Gene Mutation in Essential Thrombocytosis and Relation with Complications

Journal Name:

  • Uludağ Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 2011

Key Words:

Keywords (Original Language):

Author Name
Abstract (2. Language): 
Essential thrombocytosis (ET) is a clonal disorder, within myeloproliferative diseases group, presenting with proliferation of megakaryocytes in bone marrow manifested clinically by overproduction of platelets that may cause bleeding and thrombosis or may be asympthomatic as well. About 50% of ET patients express the Janus Kinase 2 (JAK 2) gene mutation that may increase thrombosis and hemorrhage complications. In this study we aim to determine the frequency of JAK 2 gene mutation and to investigate the complications and relation of JAK 2 gene mutation with these complications in ET patients. Ninety patients, admitted to Division of Hematology, Department of İnternal Medicine, Uludag University School of Medicine between January 2005 and May 2010, diagnosed with ET and studied for JAK 2 gene mutation were investigated retrospectively. 58 (64.4%) of 90 patients was female and 32 (35.6%) was male. Average age was 55,4±14,9 (26-85) years. 38 (42.2%) of patients had positive JAK 2 gene mutation. The complication of hemorrhage and thrombosis had developed in 29 (32.2%) of patients. 21 (72.4%) of these patients had JAK 2 gene mutation. In conclusion, JAK 2 gene mutation is an important finding for diagnosis in ET patients and it may be related with complications.
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Abstract (Original Language): 
Esansiyel Trombositoz (ET) trombosit sayısının arttığı, kemik iliğinde megakaryositlerde proliferasyonla kendini gösteren, klinik olarak asemptomatik olabildiği gibi kanama ve tromboz ile seyredebilen, myeloproliferatif hastalıklar grubunda, klonal bir kök hücre hastalığıdır. Janus Kinaz 2 (JAK 2) gen mutasyonu ET’lu hastalarda %50 civarı bir oranda görülmekte, tromboz ve hemorajik komplikasyonlarda artışa neden olabilmektedir. Bu çalışmada amacımız, ET’lu hastalarda JAK 2 gen mutasyon sıklığını saptamak, görülen komplikasyonları incelemek ve komplikasyonlarla JAK 2 gen mutasyonunun ilişkisini değerlendirmektir. Bunun için Uludağ Üniversitesi Tıp Fakültesi İç Hastalıkları Anabilim Dalı, Hematoloji Bilim Dalı Polikliniği’ne Ocak 2005-Mayıs 2010 tarihleri arasında başvuran, ET tanısıyla izlenen ve JAK 2 gen mutasyonu bakılan 90 hastanın dosyaları klinik ve laboratuvar bulguları açısından geriye dönük olarak incelendi. Alınan 90 hastanın 58’i (%64,4) kadın, 32’si (%35,6) erkekti. Yaş ortalaması 55,4±14,9 (26-85) yıldı. Hastaların 38’inde (%42,2) JAK 2 gen mutasyonu pozitif olarak saptandı. Hastaların 29’unda (%32,2) kanama veya tromboz komplikasyonu gelişirken, bunların 21’inde (%72,4) JAK 2 gen mutasyonu pozitif olarak saptandı. Sonuç olarak, ET’lu hastalarda JAK 2 gen mutasyonunun tanı için önemli bir veri olduğu ve komplikasyonlarla ilişkili olabileceği kanaatine varıldı.
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  • Turkish

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