*Department of Surgery, McMaster University, Hamilton, Ontario, Canada †Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada ‡Familial Gastrointestinal Cancer Registry, Mount Sinai Hospital, Toronto, Ontario, Canada §Toronto General Hospital, University of Toronto, Toronto, Ontario, Canada ¶Department of Pathology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; and ‖Division of Gastroenterology, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada.
Ann Surg. 2015 Jun;261(6):1138-44. doi: 10.1097/SLA.0000000000000734.
To describe the natural history and outcomes of surveillance of duodenal neoplasia in familial adenomatous polyposis (FAP).
Duodenal cancer is the most common cause of death in FAP.
Cohort study of patients prospectively enrolled in an upper endoscopic surveillance protocol from 1982 to 2012. The duodenum was assessed by side-viewing endoscopy and classified as stage 1 to 5 disease. Endoscopic and/or operative interventions were performed according to stage.
There were 218 patients in the protocol (98 with advanced stage). They had a median of 9 endoscopies (range: 2-25) over a median of 11 years (range: 1-26). Median age at diagnosis of stage 3 disease (adenoma: 2.1-10 mm) was 41 years and stage 4 disease (adenoma >10 mm) was 45 years. Median time from first esophagogastroduodenoscopy to stage 4 disease was 22.4 years. The risk of stage 4 disease was 34.3% [95% confidence interval (CI) 23.8-43.4] at 15 years. In multivariate analysis, sex, type of colorectal surgery, years since colorectal surgery, and stage were significantly associated with risk of progression to stage 4 disease. Five of 218 (2.3%) patients developed duodenal cancer at median age of 58 years (range: 51-65). The risk of developing duodenal cancer was 2.1% (95% CI: 0-5.2) at 15 years.
Patients with advanced duodenal polyposis progress in the severity of disease (size and degree of dysplasia); however, the rate of progression to carcinoma is slow. Aggressive endoscopic and surgical intervention, especially in the presence of large polyps and high-grade dysplasia, appears to be effective in preventing cancer deaths in FAP.
描述家族性腺瘤性息肉病（FAP）中十二指肠肿瘤的自然史和监测结果。
十二指肠癌是 FAP 患者最常见的死亡原因。
对 1982 年至 2012 年期间前瞻性纳入内镜监测方案的患者进行队列研究。采用侧视内镜评估十二指肠，并根据病变分期分为 1 至 5 期疾病。根据分期进行内镜和/或手术干预。
该方案共纳入 218 例患者（98 例为晚期患者）。他们平均每人接受了 9 次内镜检查（范围：2-25 次），平均随访时间为 11 年（范围：1-26 年）。诊断为 3 期疾病（腺瘤：2.1-10mm）的中位年龄为 41 岁，诊断为 4 期疾病（腺瘤>10mm）的中位年龄为 45 岁。首次上消化道内镜检查至 4 期疾病的中位时间为 22.4 年。15 年时，4 期疾病的风险为 34.3%（95%CI：23.8-43.4）。多变量分析显示，性别、结直肠手术类型、结直肠手术后时间和病变分期与进展为 4 期疾病的风险显著相关。218 例患者中有 5 例（2.3%）在中位年龄 58 岁（范围：51-65 岁）时发生十二指肠癌。15 年时发生十二指肠癌的风险为 2.1%（95%CI：0-5.2）。
患有晚期十二指肠息肉病的患者其疾病严重程度（大小和异型增生程度）会逐渐加重；然而，发展为癌的速度较慢。积极的内镜和手术干预，尤其是在存在大息肉和高级别异型增生时，似乎可以有效预防 FAP 患者的癌症死亡。
