Patients with familial adenomatous polyposis (FAP) have a lifetime risk of developing duodenal adenomas approaching 100%, and the relative risk for duodenal cancer compared with the general population is high. We conducted a retrospective study to investigate the progression of non-ampullary duodenal adenomas (NADAs) and risk factors for advanced lesions in patients with FAP. Of 248 patients with 139 pedigrees at 2 institutes, we assessed 151 patients with 100 pedigrees with a pathogenic germline variant in the adenomatous polyposis coli gene, excluding mosaic variants. We evaluated the prevalence of NADAs in patients with FAP, the progression of these adenomas to advanced adenoma during the observation period, and the risk factors for the lifetime development of high-grade dysplasia (HGD), large (≥ 10 mm) duodenal adenomas, and Spiegelman stage IV. During the median observation period of 7 years, the incidences of patients with NADAs, with more than 20 polyps, with polyps ≥ 10 mm, with HGD, and with stage IV at the last esophagogastroduodenoscopy were increased 1.6-fold, 1.7-fold, 5-fold, 22-fold, and 9-fold, respectively. Intramucosal cancer occurred in three patients (2%), but no patients developed invasive cancer during the observation period because we performed endoscopic intervention for advanced adenomas. Stage progression was observed in 71% of 113 patients. Stage IV was more common in women, patients with a history of colectomy, and those with a 3’ side mutation in their adenomatous polyposis coli gene. NADAs in patients with FAP frequently become exacerbated. Our findings suggest that patients with FAP who develop duodenal adenomas should be surveyed to prevent the development of duodenal cancer.

中文翻译：

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家族性腺瘤性息肉病患者十二指肠肿瘤进展为晚期腺瘤

家族性腺瘤性息肉病（FAP）患者终生患十二指肠腺瘤的风险接近100%，与一般人群相比，十二指肠癌的相对风险很高。我们进行了一项回顾性研究，旨在调查 FAP 患者非壶腹十二指肠腺瘤 (NADA) 的进展以及晚期病变的危险因素。在 2 个研究所的 139 个家系的 248 名患者中，我们评估了 100 个家系的 151 名患者，其中腺瘤性息肉病大肠杆菌基因存在致病性种系变异，不包括嵌合体变异。我们评估了 FAP 患者中 NADA 的患病率、观察期间这些腺瘤进展为晚期腺瘤的情况，以及终生发展为高度不典型增生 (HGD)、大（≥ 10 mm）十二指肠腺瘤、和斯皮格曼IV期。在中位观察期7年期间，NADA、息肉超过20个、息肉≥10毫米、HGD、最后一次食管胃十二指肠镜检查时IV期患者的发生率分别增加了1.6倍、1.7倍、5倍。分别为-倍、22倍和9倍。3名患者（2%）发生粘膜内癌，但由于我们对晚期腺瘤进行了内镜介入治疗，因此在观察期间没有患者发生浸润性癌。113 名患者中有 71% 观察到分期进展。IV 期在女性、有结肠切除史的患者以及腺瘤性息肉病基因 3' 侧突变的患者中更为常见。FAP 患者的 NADA 经常恶化。我们的研究结果表明，应该对发生十二指肠腺瘤的 FAP 患者进行调查，以预防十二指肠癌的发生。