JAK 2V617F Mutation: Frequency and relation to clinical and laboratory features of BCR-ABL negative myeloproliferative diseases

JAK 2V617F Mutasyonu: BCR-ABL negatif myeloproliferatif hastalıklardaki sıklığı, klinik ve laboratuar bulgularla ilişkisi

Özet

Bu çalışmada, polisitemia vera (PV), esansiyel trombositemi (ET) ve idiopatik myelofibrozisten (IMF) oluşan BCR-ABL negatif myeloproliferatif hastalıklarda JAK2 V617F mutasyonunun sıklığı, klinik ve laboratuar bulgularıyla ilişkisini araştırmayı planladık. Çalışmaya 28 (%43.1) PV, 29 (%44) ET, 8 (%12.3) IMF hastası olmak üzere toplam 65 hasta alındı. Hastaların 41i (%63) kadın, 24ü (%37) erkekti. Ortalama yaş 64.02±12.42 idi. Bu mutasyonun sıklığı, PV hastalarının 25inde (%89.3), ET hastalarının 18inde (% 62.1) ve IMF hastalarının 2sinde (%25) olarak bulundu. JAK2 V617F mutasyonu olan ve olmayan PV ve ET ve IMF hastaları arasında cinsiyet, tromboz sıklığı, konstitüsyonel semptomlar, pruritus, hemoraji, splenomegali, kemik iliği fibrozisi, sitoredüktif tedavi ihtiyacı, arteriyel/ venöz tromboz gelişimleri açısından bir fark bulamadık. Heterozigot ve homozigot JAK2 V617F mutasyonu olan PV ve ET hastaları, bu parametreler açısından karşılaştırıldığında, anlamlı bir fark yoktu (p>0.05).

Abstract

In this study, we planned to investigate frequency of the JAK2 V617F mutation and its relation with clinical and laboratory findings of BCR-ABL negative myeloproliferative diseases (MPD) which consist of polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Totally 65 patients were included in the study which composed of 28 (43.1 %) PV, 29 (44 %) ET and 8 (12.3 %) IMF patients. Forty one (63%) patients were female and 24 (37%) were male. Mean age of patients was 64.02±12.42. Frequency of the JAK2V617F mutation was found in 25 (89.3%) of PV, 18 (62.1%) of ET and 2 (25%) of IMF patients. We found no difference in gender and frequency of thrombosis, constitutional symptoms, pruritus, hemorrhage, splenomegaly, bone marrow fibrosis, cytoreductive treatment requirement, arterial/venous thrombosis between JAK2 V617F mutated and unmutated PV and ET and IMF patients. When compared homozygous and heterozygous JAK2 V617F mutated PV and ET patients according to these variables, there was no significant difference. There were no statistically significant difference in Hemoglobin (Hb), hematocrit (HCT), leukocyte, lactate dehidrogenase (LDH), EPO and ferritin levels between JAK2 V617F mutated and unmutated PV and ET patients. HCT levels and leukocyte counts were significantly higher in JAK2 V617F mutated than unmutated IMF patients (p=0.046, p=0.046). Other variables were not found different. Comprehensive prospective studies are necessary for determining the relationship of the JAK2 V617F mutation with clinical and laboratory findings .