遗传性结直肠癌在线风险评估工具的应用效果研究  

Study on application of an online risk assessment tool for hereditary colorectal cancer

作　　者：余杰海 吴晓丹[1] 黎琴 杨华志 丁培荣[1] 姜武[1] Yu Jiehai;Wu Xiaodan;Li Qin;Yang Huazhi;Ding Peirong;Jiang Wu(Department of Colorectal Surgery,Sun Yat-sen University Cancer Center,State Key Laboratory of Oncology in Southern China,Collaborative Innovation Center for Cancer Medicine,Guangzhou 510060,China;Geneplus-Shenzhen Ltd.,Shenzhen 518118,China)

机构地区：[1]中山大学肿瘤防治中心结直肠科,华南恶性肿瘤防治全国重点实验室,肿瘤医学协同创新中心,广东广州510060 [2]深圳基因家科技有限公司,广东深圳518118

出　　处：《实用肿瘤杂志》2025年第1期61-66,共6页Journal of Practical Oncology

基　　金：广东省医学科学技术研究基金(201911721422592)。

摘　　要：目的开发构建遗传性结直肠癌在线风险评估工具,探究其对于提高患者家族史采集完整性的作用。方法开发一个基于美国国立综合癌症网络指南和中国家族遗传性肿瘤临床诊疗专家共识的遗传性结直肠癌在线风险评估工具(简称在线工具)。收集2019年11月至2021年5月在中山大学肿瘤防治中心结直肠科就诊并使用在线工具登记肿瘤家族史的469例患者的诊治信息。通过对比电子病历系统收集的肿瘤家族史情况,评估在线工具对提高肿瘤病史和肿瘤家族史采集完整性的作用。结果469例患者中,91例(19.4%)因在线工具信息登记缺失被剔除,最终纳入378例。通过在线工具登记的患者家族肿瘤史阳性率高于通过病历登记的患者(45.2%vs 25.4%,P<0.01)。在两种方法均登记为家族史阳性的96例患者中,32例(33.3%)通过在线工具登记的家族肿瘤患者数多于通过病历登记的。378例患者中,62例(16.4%)患者因在线工具登记的家族肿瘤患者数增加而评估遗传性结直肠癌风险升高。结论在线工具可有效提高患者肿瘤家族史的完整性,识别更多的肿瘤风险人群,但目前仅能作为初筛的辅助手段,未来仍需进一步完善并通过大样本的前瞻性研究验证其预测效能。Objective To develop an online risk assessment tool for hereditary colorectal cancer,and explore its effect on improving the integrity of family history collection.Methods An online risk assessment tool for hereditary colorectal cancer,referred to as the online tool,was developed based on the National Comprehensive Cancer Network guidelines and the Chinese expert consensus on clinical diagnosis and treatment of familial hereditary tumors.The data of 469 patients who visited the Department of Colorectal Surgery,Sun Yat-sen University Cancer Center from November 2019 to May 2021,and used the online tool was retrospectively collected.The effectiveness of the online risk assessment tool on the completeness of the collection of medical and family history of cancer was evaluated by comparing with electronic medical records.Results Among 469 patients,91 cases(19.4%)were excluded due to missing information from the online tool.Therefore,378 patients were finally included.The positive rate of family history of cancer registered by the online tool was significantly higher than that by medical records(45.2%vs 25.4%,P<0.01).Among the 96 patients with positive family history recorded by both approaches,32 patients(33.3%)reported more family members with cancer history via the online tool than that via medical records.Among the 378 patients,62 patients(16.4%)were evaluated to have an increased risk of hereditary colorectal cancer due to the increased number of family members with cancer history reported through the online tool.Conclusions The online tool can effectively improve the integrity of family history collection and therefore identify more people at risk,though it can only be utilized as an assistant method for preliminary screening and future improvements and validation of the predictive efficacy are still needed through large-scale prospective studies.

关 键 词：遗传性结直肠癌 家族史 在线工具 

分 类 号：R735.34[医药卫生—肿瘤]