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Information × Registration Number 0216U005269, 0114U002849 , R & D reports Title The molecular-genetic factors of thrombosis in patients with Ph-negative myeloproliferative neoplasia who suffered from the Chernobyl accident popup.stage_title Head Klymenko Serhij Victorovych, Доктор медичних наук Registration Date 21-01-2016 Organization State institution "National research centеr for radiation medicine of the National academy of medical sciences of Ukraine " popup.description2 Object of research - the molecular-genetic characteristics of patients with polycythemia vera (SP), essential thrombocythemia (ET), idiopathic myelofibrosis (IMP) and myeloid neoplasms with eosinophilia (MNE), including those who suffered from the Chernobyl nuclear power plant (NPP). Objective: to analize the value of thrombosis prediction of the JAK2V617F mutation, the polymorphism of the gene factors II and V of coagulationin in patients with Ph-negative myeloproliferative neoplasia (MPN). Methods - general-clinic, molecular-genetics, statistics. Molecular-genetic and general-clinical characteristics of 65 and 423 patients with radiation-associated spontaneous MPN respectively were analyzed. The JAK2V617F mutation occurs more frequently in patients with spontaneous ET and with thrombosis, than in persons without them (90.00% vs. 65.93%). In patients with spontaneous ET, the JAK2V617F-positive mutation status predicts the increase of prevalence of thrombosis (23.0% vs. 6.0%), their risk for thrombosis (RR = 1.5; 95% CI = 1.3-1.8) and the reduction of the survival without thrombosis. It was proved, that the presence of the JAK2V617F mutation increases the likelihood of venous thrombosis (OR = 1.4; 95% CI = 1.3-1.7) in patients with ET without radiation history. ET patients with the JAK2V617F mutation were found to have a higher average value of erythrocytes, hemoglobin, MCV and lower ESR 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. A greater frequency of the carriage of the G1691A allele of the factor V coagulation gene or the G20210A allele of the prothrombin gene was observed in patients with spontaneous IMF with thrombosis, than in patients without them (27.27% vs. 4.47%). In spontaneous IMF, the presence of any of the molecular-genetic markers of the hereditary thrombophilia increases the frequency (50.00% vs. 11.11%) and risk (RR = 6.09; 95% CI = 1,40-26,43) of any thrombotic events. The carriage of the G1691A nucleotide variant of the proaccelerin gene in the control group of IMF patients causes the probability growth of venous thrombosis (OR = 10.1, 95% CI = 1.6-61.3). 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 presence of the G1691A allele of the factor V gene or the G20210A allele of factor II coagulationin gene in IMF patients without a radiation history, is indicative of an average capacity (AUC = 0.66) for the predictions of thrombosis. In both the main and in the control group of IMF patients the same AUC (p = 0.639) is defined for the implementation of "the carriage the G1691A allele of the factor V dene or the G20210A allele of the factor II coagulation gene" of thrombosis prediction. Hence, the marker is appropriate for use in patients with spontaneous and radiation-associated pathology. Product Description popup.authors Вербиленко Роксана Миколаївна Клименко Сергій Вікторович Міщенюк Ольга Юріївна Неумержицька Любов Володимирівна Шкарупа Володимир Миколайович popup.nrat_date 2020-04-02 Close