Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections - a nationwide Danish cohort study with long-term follow-up.

IF 1.8 4区医学 Q3 GENETICS & HEREDITY Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-07-24 DOI:10.1007/s10689-024-00415-x

J G Karstensen, M D Wewer, S Bülow, Tvo Hansen, H Højen, A M Jelsig, T P Kuhlmann, J Burisch, H C Pommergaard

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Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

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接受十二指肠切除术的家族性腺瘤性息肉病患者的内窥镜指标--一项长期随访的丹麦全国性队列研究。

背景：家族性腺瘤性息肉病（FAP家族性腺瘤性息肉病（FAP）易导致十二指肠腺瘤。本研究描述了十二指肠内窥镜和手术标本的组织病理学特征，以及基因型与表型之间的关联：方法：所有已知的 FAP 患者均来自丹麦息肉病登记处。方法：所有已知的 FAP 患者均来自丹麦息肉病登记处。FAP 患者的定义是：累计结直肠腺瘤超过 100 个和/或 APC 基因中存在已知的种系致病变异。对内镜手术、组织病理学和遗传学进行了评估：在 500 名 FAP 患者中，70.6% 至少接受过一次食管胃十二指肠镜检查（EGD）。其中，59.2%的患者可检测到十二指肠腺瘤。形态最严重的是62.7%的管状腺瘤、25.4%的管状腺瘤和12.0%的绒毛状腺瘤，而发育不良最严重的是67.5%的低度腺瘤、25.4%的高度腺瘤和6.7%的腺癌。在 6.2% 的 FAP 患者中，建议进行十二指肠切除术，其中包括 29% 的十二指肠腺癌患者。十二指肠手术风险为 1.31‰（中位年龄：53 岁）。手术的主要原因是广泛性息肉病（67.7%）。在接受十二指肠切除术的患者中，术前五年内进行过六次（IQR：4-8）中位数胃肠造影检查，但分别有 67.6% 和 83.9% 的患者从未接受过十二指肠息肉切除术或内镜粘膜切除术。值得注意的是，500 名患者中有 17 人（3.4%）罹患十二指肠腺癌，其中 47% 在确诊时已是晚期。基因评估发现了 APC 基因中的多种致病变异，但基因型与表型之间没有很强的关联：结论：FAP 患者十二指肠腺瘤和癌症的发病率很高，因此需要警惕内镜监测。尽管如此，十二指肠手术的需求仍然存在，因此应在国家登记册中对十二指肠手术和内镜操作进行监测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Familial Cancer 医学-遗传学

CiteScore

4.10

自引率

4.50%

发文量

审稿时长

6-12 weeks

期刊介绍： In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.