家族性腺瘤性息肉病患者结直肠息肉的内镜下诊断治疗进展  

Progress in endoscopic treatment of colorectal polyps in patients with familial adenomatous polyposis

作　　者：刘宝帅 高显华 潘受禹 曹强坚 刘连杰 张卫 Baoshuai Liu;Xianhua Gao;Shouyu Pan;Qiangjian Cao;Lianjie Liu;Wei Zhang(Department of Colorectal Surgery,the First Affiliated Hospital,Naval Medical University(Shanghai Changhai Hospital),Shanghai 200433,China;Hereditary Colorectal Cancer Center and Genetic Block Center of Familial Cancer,Changhai Hospital,Shanghai 200433,China)

机构地区：[1]海军军医大学第一附属医院(上海长海医院)肛肠外科,200433 [2]上海长海医院遗传性结直肠癌筛查防治中心和遗传性肿瘤家庭阻断中心,200433

出　　处：《中华结直肠疾病电子杂志》2024年第1期26-31,共6页Chinese Journal of Colorectal Diseases(Electronic Edition)

基　　金：国家自然科学基金面上项目(No.82372903);国家重点研发计划项目(No.2022YFC2503701);上海市卫生健康委员会卫生行业临床研究专项(No.202240350);海军军医大学"深蓝"工程"远航"人才计划基金、长海医院"234学科攀峰计划"(No.2020YXK022)。

摘　　要：家族性腺瘤性息肉病(FAP)是一种以结直肠内多发性腺瘤性息肉为特征的遗传性综合征。广义上,所有的腺瘤性息肉病都可以称为FAP;狭义上,只有APC基因突变引起的腺瘤性息肉病才是FAP。FAP患者的结直肠内会出现数十枚甚至数千枚腺瘤性息肉,发生结直肠癌的风险非常高。预防性全大肠切除术(TPC)或全结肠切除术(TC)是FAP的标准治疗方案。近年来,内镜下治疗结直肠息肉取得了巨大的进步,不仅可以治愈轻表型FAP,还可用于经典型FAP,推迟手术的时机;FAP患者行TPC/TC术后也需要定期行结肠镜监测,以免残余直肠、回肠储袋和肛管移行区发生癌变。随着内镜检查和治疗方法的不断进步,内镜下息肉切除术治疗FAP的适应证在逐渐扩大,内镜下可切除的息肉数目越来越多;TPC/TC的时机被不断地推迟,可以保留直肠的FAP患者也越来越多。内镜下治疗有利于改善患者的排尿排便和性功能,提高生活质量;但需要反复进行,有出血、穿孔和癌变的风险,而且治疗费用高。其长期结果和成本效益还有待进一步评估。Familial adenomatous polyposis(FAP)is a hereditary syndrome characterized by multiple adenomatous polyps in the colon and rectum.The broad definition of FAP includes all patients with adenomatous polyposis;the narrow definition of FAP only includes patients with adenomatous polyposis caused by germline APC gene mutations.Patients with FAP will develop dozens or even thousands of colorectal adenomatous polyps,with extremely high risks of colorectal cancer.Prophylactic total proctocolectomy(TPC)or total colectomy(TC)is the standard treatment for FAP.In recent years,endoscopic treatment of colorectal cancer polyps in FAP patients has achieved great progress.It can not only be used to cure attenuated FAP,but also can be used to treat patients with classic FAP to postpone the timing of TPC/TC.In addition,after TPC/TC,FAP patients also require regular endooscopic monitoring and treatment to prevent cancer in the residual rectum,ileal pouch and anal transition zone.With the continuous advancement of endoscopic examination and treatment methods,the indications of endoscopic polypectomy are gradually expanding,and the number and size of polyps that can be treated by endoscopic treatment have been increasing.The timing of TPC/TC has being postponed,and the rectum could be retained in more and more patients with FAP.Endoscopic treatment of FAP will help improve patient’s urinary,defecation and sexual function,and improve their quality of life.However,due to the required repeated procedures,it carries high risks of intestinal bleeding,perforation and canceration,and its treatment cost is also very high.Further studies are required to evaluate its long-term results and cost-effectiveness.

关 键 词：家族性腺瘤性息肉病 结肠息肉 直肠息肉 残余直肠 回肠储袋 内镜治疗 

分 类 号：R735.34[医药卫生—肿瘤]