遗传性血栓性疾病和癌症都可以独立增加静脉血栓栓塞（VTE）的风险。然而，遗传性血栓性疾病与癌症患者存在的VTE风险增加是否明确尚不清楚。我们的目标是确定遗传性血栓性疾病对中高风险门诊化疗癌症患者的VTE和出血风险的影响。我们使用参与AVERT试验的患者的血样进行事后分析，以确定先前已知的血栓性基因突变（凝血酶原FII G20210A、XI因子、纤维蛋白原Gamma、血管紧张素抑制素家族A成员10、V因子K858R、XIII因子、V Leiden（FVL）和ABO血型）是否与开始化疗后7个月内的VTE或出血有关。使用逻辑回归比较杂合子和纯合子突变（合并）与野生型之间的VTE率、出血率和风险差异。按预防性抗凝治疗使用分层分析突变。在447名患者中，出现了39例VTE和39例出血事件。FVL突变和非O型血型与VTE的几率显著增加[比值比（OR）：5.2（95％ CI：1.9-14.7）和2.7（95％ CI：1.2-6.1），分别]。抗凝预防治疗在FVL患者中完全预防了VTE，而未接受抗凝治疗的患者VTE发生率为每100患者年119次。接受预防性抗凝治疗的非O型血型患者的VTE率也较低。其他进行的血栓性基因检测与VTE或出血没有显著相关性。我们的结果表明FVL突变和ABO血型可能是开始化疗的癌症患者的重要VTE预测因子。 版权© 2023年国际血栓与止血学会。Elsevier Inc.发表。保留所有权利。

Inherited thrombophilia and cancer both independently increase the risk of venous thromboembolism (VTE). However, whether the increased VTE risk associated with inherited thrombophilia exists in cancer patients is less clear.Our objective was to determine the influence of inherited thrombophilia on VTE and bleeding risk in moderate-high risk ambulatory cancer patients receiving chemotherapy.We conducted a post-hoc analysis using blood samples from patients enrolled in the AVERT trial to determine if previously recognized thrombophilia gene mutations (Prothrombin FII G20210A, Factor XI, Fibrinogen Gamma, Serpin Family A Member 10, Factor V K858R, Factor XIII, Factor V Leiden (FVL), and ABO blood) were associated with VTE or bleeding during the 7-months after starting chemotherapy. Logistic regression was used comparing heterozygous and homozygous mutations (combined) to wild type. VTE rates, bleeding rates and risk differences for mutations stratified by prophylactic anticoagulation use were calculated.Of the 447 patients, there were 39 VTE and 39 bleeding events. The odds of VTE were significantly increased with FVL mutation and non-O blood type [OR: 5.2 (95%CI:1.9-14.7) and 2.7 (95%CI:1.2-6.1), respectively]. The use of anticoagulation prophylaxis resulted in complete protection in FVL patients whereas those not receiving anticoagulation had a VTE rate of 119 per 100 patient-years. Lower VTE rates were also observed in non-O blood type patients taking prophylactic anticoagulation. No other thrombophilia genes tested were significantly associated with VTE or bleeding.Our results indicate FVL mutation and ABO blood type may be important VTE predictors in cancer patients starting chemotherapy.Copyright © 2023 International Society on Thrombosis and Haemostasis. Published by Elsevier Inc. All rights reserved.