National Academy of Medical Sciences of Ukraine
State Institution "The National Research Center for Radiation Medicine"

ISSN 2313-4607 (Online)
ISSN 2304-8336 (Print)

Problems of Radiation Medicine and Radiobiology



Mishcheniuk O. Y., Kostukevich O. M., Dmytrenko I. V., Klymenko S. V.

Specifics of the course and the clinical pictures of essential thrombocythemia depending on the JAK2V617F status of the patients

Objective. The purpose of the study was to analyze the specific features of the relationship between the JAK2V617F mutation and clinical presentation, and risks of thrombosis in patients with spontaneous and radiation-associated essential trombocitemia (ET).
Materials and methods. Clinical, laboratory-hematological, molecular-genetic characteristics of ET patients were analyzed. The group of patients with radiation-associated ET was represented by 10 individuals and the cohort of spontaneous ET represented by 111 persons.
Results. The JAK2V617F-positive mutation status in patients with spontaneous ET is the predictor of the increase of distribution of thrombosis (23.0 % vs. 6.0 %), risk of its development (relative risk = 1.5; 95 % confidence interval = 1.3–1.8), and the decrease of survival without thrombosis. It has been proved that presence of the JAK2V617F mutation increases the probability of venous thrombosis (relative risk = 1.5; 95 % confidence interval = 1.30–1.7) in spontaneous ET patients. The use of the JAK2V617F mutation status of patients with spontaneous and radiation-associated ET (AUC = 0.62 and AUC = 0.68 respectively) complies with the average power marker for the prediction of thrombosis. The carriage of the JAK2V617F mutation in patients with spontaneous and radiation-associated ET is characterized by a higher (93.9 % and 100 % accordingly) indicator of predictive value of a negative result to determine of the risk of thrombosis. ET patients with the JAK2V617F mutation were found to have a higher average value of erythrocytes, hemoglobin, mean corpuscular volume and lower erythrocyte sedimentation rate in their peripheral blood, when compared to those without the mutation. Trepanobioptat samples of JAK2V617F-positive ET patients exhibited a prevalence of moderate hypercellularity of bone marrow, large and giant forms of megakaryocytes, reticulin fibrosis and microcirculation disorders compared to individuals without the mutation. A greater number of average quantities of leukocytes in JAK2V617F-positive patients with radiation-associated ET were found compared to JAK2V617F-negative persons.

Key words: essential trombocitemia, clinical-laboratorial characteristics, thrombosis, JAK2V617F mutation.

Problems of radiation medicine and radiobiology. 2015;20:399-413.

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