Imam Abdulrahman Bin Faisal University

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    Phenotypic and genotypic characterization of patients diagnosed with Von Willebrand Disease type 1 in the eastern province in Saudi Arabia
    (Imam Abdulrahman Bin Faisal University, 2020) Al Faris, Asma Abdulrazaq Faris; Albashawri, Layla
    Background: Venous thromboembolism (VTE) is one of the major complications inmost cancer patients leading to poor prognosis and short survival. Several commonclinical risk factors coexist in cancer patients are used as risk predictive biomarkers tohelp in the management and prevention of VTE. These include cancer site and stage,chemotherapy regimen and elevated biological markers. However, Geneticpolymorphisms in genes controlling coagulation and fibrinolysis significantly associatedwith VTE if detected, then they might be more sensitive individual predictive biomarkersfor VTE risk assessment. This study was conducted to evaluate the association betweenITGB3 rs3809865 and rs5918 with VTE risk as well as monitor the effect of VTE onoverall survival of these cancer patients.Method: In this retrospective case-control study, 195 FFPE cancer patients’ sampleswere collected (controls n=157, case n=38) using the stored data through Jan 2010 to Sep2018 from King Fahad Specialist Hospital in Dammam. Samples were genotyped usingTaqMan genotyping assay, then logistic regression analysis and Chi-square were used topredict the association between risk factors and VTE. Survival Comparison was tested bythe log-rank test.Results: Genetic polymorphisms in ITGB3 (rs3809656 and rs5918) found not to beassociated with VTE increasing risk in cancer patients (P>0.05). While the advancedstage was potentially increasing the risk of VTE events (OR 5.1 CI 2.01-12.9 P=0.001).Patients with VTE showed a poor overall survival reflected by the median survival rateof only three years compared to seven years for cancer patients without VTE.Conclusion: This study highlighted the potential influence of VTE on prognosis andsurvival of cancer patients and raised the importance of exploring risk predictivebiomarkers in our population. This will improve the risk prediction biomarkers leadingto implementing safe and effective thrombosis prophylaxis strategies
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