Danish Polyposis Register, Gastro Unit, Copenhagen University Hospital - Amager and Hvidovre, Kettegaard Allé 30, DK-2650, Hvidovre, Denmark.
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Fam Cancer. 2024 Nov;23(4):607-615. doi: 10.1007/s10689-024-00415-x. Epub 2024 Jul 24.
Familial adenomatous polyposis (FAP) predisposes individuals to duodenal adenomas. This study describes the histopathological features of endoscopic and surgical specimens from the duodenum, as well as genotype-phenotype associations.
All known FAP patients were included from the Danish Polyposis Register. FAP patients were defined as having more than 100 cumulative colorectal adenomas and/or having a known germline pathogenic variant in the APC gene. Endoscopic procedures, histopathology, and genetics were evaluated.
Of 500 FAP patients, 70.6% underwent esophagogastroduodenoscopy (EGD) at least once. Of these, 59.2% presented with detectable duodenal adenomas. The most severe morphology was tubular in 62.7% patients, tubulovillous in 25.4%, and villous in 12.0%, while the most severe dysplasia was low-grade in 67.5% patients, high-grade in 25.4%, and 6.7% had adenocarcinoma. In 6.2% of FAP patients, duodenal resection was recommended, including 29% with duodenal adenocarcinoma. The risk of duodenal surgery was 1.31 per 1,000 person-years (median age: 53 years). The predominant reason for surgery was extensive polyposis (67.7%). Of the patients who underwent duodenal resection, a median of six (IQR: 4-8) EGDs were performed within five years prior to surgery, but 67.6% and 83.9% never underwent a duodenal polypectomy or endoscopic mucosa resection, respectively. Of note, seventeen of 500 patients (3.4%) developed duodenal adenocarcinoma, of which 47% were advanced at diagnosis. Genetic evaluations revealed various pathogenic variants in the APC gene, with no strong genotype-phenotype association.
The prevalence of duodenal adenomas and cancer in FAP warrants vigilant endoscopic surveillance. Nevertheless, the need for duodenal surgery persists and should together with endoscopic practice be monitored in national registers.
家族性腺瘤性息肉病（FAP）使个体易患十二指肠腺瘤。本研究描述了十二指肠内镜和手术标本的组织病理学特征，以及基因型-表型相关性。
从丹麦息肉登记处纳入所有已知的 FAP 患者。FAP 患者定义为累积结直肠腺瘤超过 100 个，或存在 APC 基因种系致病性变异。评估内镜操作、组织病理学和遗传学。
500 名 FAP 患者中，70.6%至少进行过一次食管胃十二指肠镜检查（EGD）。其中，59.2%的患者存在可检测到的十二指肠腺瘤。最严重的形态学为管状 62.7%，管状绒毛状 25.4%，绒毛状 12.0%，而最严重的异型增生为低级别 67.5%，高级别 25.4%，6.7%为腺癌。在 6.2%的 FAP 患者中，建议进行十二指肠切除术，其中 29%的患者患有十二指肠腺癌。十二指肠手术的风险为每 1000 人年 1.31 例（中位年龄：53 岁）。手术的主要原因是广泛的息肉病（67.7%）。行十二指肠切除术的患者中，中位数 6 例（IQR：4-8）在术前 5 年内进行 EGD，但 67.6%和 83.9%分别从未行十二指肠息肉切除术或内镜黏膜切除术。值得注意的是，500 名患者中有 17 名（3.4%）发生十二指肠腺癌，其中 47%在诊断时已处于晚期。基因评估显示 APC 基因存在多种致病性变异，但无明显的基因型-表型相关性。
FAP 患者十二指肠腺瘤和癌症的患病率需要进行警惕性的内镜监测。然而，仍然需要进行十二指肠手术，并且应该在国家登记处与内镜实践一起监测。
