Department of General, Endocrinological Surgery and Gastroenterological Oncology, Poznan University of Medical Sciences, 61-701 Poznan, Poland.
Department of Gastroenterology, Dietetics and Internal Diseases, Poznan University of Medical Sciences, 61-701 Poznan, Poland.
Genes (Basel). 2022 Dec 10;13(12):2329. doi: 10.3390/genes13122329.
Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by a germline mutation in the adenomatous polyposis coli () gene. Patients with FAP develop up to thousands of colorectal adenomas as well as lesions in the upper GI tract. In FAP, the upper digestive lesions include gastric fundic gland polyps (FGPs), antrum adenomas, duodenal or small intestinal adenomas, and carcinoma. Patients, after colectomy, are still at significant risk for extracolonic malignancies. Advances in endoscope resolution and optical enhancement technologies allow endoscopists to provide assessments of benign and malignant polyps. For this reason, in the past decades, endoscopic resection techniques have become the first line of treatment in patients with polyps in the upper GI, whereby polyps and even early cancers can be successfully cured. In FAP patients, endoscopic ampullectomy appears to be a safe and effective way of treating patients with ampullary tumors. According to current indications, endoscopic retrograde cholangiopancreatography (ERCP) and stenting of the main pancreatic duct follow ampullectomy.
家族性腺瘤性息肉病（FAP）是一种常染色体显性遗传疾病，由腺瘤性结肠息肉病（APC）基因的种系突变引起。FAP 患者会发展出多达数千个结直肠腺瘤以及上消化道病变。在 FAP 中，上消化道病变包括胃底腺息肉（FGPs）、胃窦腺瘤、十二指肠或小肠腺瘤和癌。接受结肠切除术的患者仍然存在结外恶性肿瘤的高风险。内镜分辨率和光学增强技术的进步使内镜医生能够对良性和恶性息肉进行评估。因此，在过去几十年中，内镜切除术技术已成为上消化道息肉患者的一线治疗方法，通过这种方法可以成功治愈息肉甚至早期癌症。对于 FAP 患者，内镜乳头切除术似乎是治疗壶腹肿瘤患者的一种安全有效的方法。根据目前的适应证，内镜逆行胰胆管造影（ERCP）和主胰管支架置入紧随乳头切除术之后。
