胸腹恶性肿瘤患者血栓形成的遗传因素 FII G20210A、FV G1691A (Arg506Gln)

A. A. Korolyova, S. Gerasimov, L. N. Lyubchenko
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The study included 223 patients with malignant tumors of the lung, stomach, esophagus, operated in the Department of Thoracic Oncology of the N.N. Blokhin National Research Center of Oncology in 2018–2019. The study groups consisted of patients with myocardial infarction (n = 62), ischemic stroke (n = 24), venous thrombosis/ venous thromboembolic complications (n = 40), patients without cardiovascular diseases, but with a family history burdened by cardiovascular diseases (n = 33). The control group included 81 patients.Results. Among patients with malignant tumors of thoracoabdominal localization, a statistically significant difference was determined in the frequency of carriage of the heterozygous genotype FV 1691GA (Arg506Gln) in patients who had a myocardial infarction (χ2 = 4.0; p = 0.046), who had venous thrombosis (χ2 = 4.118; p = 0.043), in the group of patients with burdened with a family history (χ2 = 4.997; p = 0.026) in comparison with the control group. 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摘要

简介恶性肿瘤是静脉和动脉血栓形成的主要因素之一。尽管许多止血基因的多态性被认为是无条件证明的累积性血栓形成高风险因素,而且这些基因编码的蛋白质是肿瘤过程中病理高凝状态级联的直接环节,但目前还没有数据表明有必要对癌症患者进行血栓形成遗传易感性基因检测。确定胸腹恶性肿瘤患者中血栓并发症遗传风险高的人群。研究对象包括2018-2019年在N.N. Blokhin国家肿瘤学研究中心胸部肿瘤科手术的223例肺、胃、食管恶性肿瘤患者。研究组包括心肌梗死患者(n = 62)、缺血性中风患者(n = 24)、静脉血栓/静脉血栓栓塞并发症患者(n = 40)、无心血管疾病但有心血管疾病家族史的患者(n = 33)。对照组包括81名患者。在胸腹局部恶性肿瘤患者中,心肌梗死患者携带杂合基因型 FV 1691GA (Arg506Gln)的频率差异有统计学意义(χ2 = 4.0;p = 0.046)、静脉血栓患者(χ2 = 4.118;p = 0.043)、有家族史负担的患者组(χ2 = 4.997;p = 0.026)中的杂合子基因型 FV 1691GA(Arg506Gln)与对照组相比有显著差异。与对照组相比,发生过急性脑血管意外的患者组(χ2 = 6.881; p = 0.009)和有家族病史的患者组(χ2 = 7.563; p = 0.006)携带 FII G20210A 基因突变杂合变体的频率有统计学意义的差异。为了评估曾患心肌梗死、缺血性脑卒中、静脉血栓/静脉血栓栓塞并发症的胸腹部恶性肿瘤患者在围手术期发生血栓并发症的风险和预防措施,需要对胸腹部恶性肿瘤患者和无心血管并发症的患者在围手术期发生血栓并发症的风险和预防措施进行评估、以及无心血管病变但一级亲属中有血栓形成情况的患者,建议在入院前进行 DNA 诊断,以确定 FII G20210A 和 FV G1691A (Arg506Gln) 基因多态性。
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Genetic factors of thrombosis FII G20210A, FV G1691A (Arg506Gln) in patients with thoracoabdominal malignant tumors
Introduction. Malignant tumor is one of the leading factors of venous and arterial thrombosis. But there is no data on the need for a genetic testing protocol of cancer patients for genetic predisposition thrombotic conditions, despite the fact that a number of polymorphisms of hemostasis genes are considered to be unconditionally proven factors of high cumulative thrombogenic risk, and proteins encoded by these genes are direct links in the cascades of pathological hypercoagulation in neoplastic processes.Aim. To identify groups of high genetic risk of thrombotic complications among patients with malignant thoracoabdominal tumors.Materials and methods. The study included 223 patients with malignant tumors of the lung, stomach, esophagus, operated in the Department of Thoracic Oncology of the N.N. Blokhin National Research Center of Oncology in 2018–2019. The study groups consisted of patients with myocardial infarction (n = 62), ischemic stroke (n = 24), venous thrombosis/ venous thromboembolic complications (n = 40), patients without cardiovascular diseases, but with a family history burdened by cardiovascular diseases (n = 33). The control group included 81 patients.Results. Among patients with malignant tumors of thoracoabdominal localization, a statistically significant difference was determined in the frequency of carriage of the heterozygous genotype FV 1691GA (Arg506Gln) in patients who had a myocardial infarction (χ2 = 4.0; p = 0.046), who had venous thrombosis (χ2 = 4.118; p = 0.043), in the group of patients with burdened with a family history (χ2 = 4.997; p = 0.026) in comparison with the control group. Statistically significant difference in the frequency of carriage of the heterozygous variant of the mutation in the FII G20210A gene relative to the control group, it was determined in the group of patients who had an acute cerebrovascular accident (χ2 = 6.881; p = 0.009) and among patients with a burdened history (χ2 = 7.563; p = 0.006).Conclusion. In order to assess the risk of development and prevention of thrombotic complications in the perioperative period in patients with malignant thoracoabdominal tumors, who have suffered myocardial infarction, ischemic stroke, venous thrombosis/venous thromboembolic complications, as well as patients without cardiovascular pathology, but with thrombotic conditions in relatives of the first degree, it is advisable to perform DNA diagnostics at the prehospital stage to identify of gene polymorphisms FII G20210A and FV G1691A (Arg506Gln).
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