Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Japan.
Kosaka Internal Medicine and Gastroenterology Clinic, Japan.
Intern Med. 2023 Sep 15;62(18):2651-2654. doi: 10.2169/internalmedicine.1101-22. Epub 2023 Feb 1.
A 36-year-old man was diagnosed with multiple gastric polyps by esophagogastroduodenoscopy. Subsequent colonoscopy identified two tubular adenomas, and computed tomography revealed subcutaneous tumors. Based on these findings, we suspected that gastric polyposis was associated with the APC gene, either attenuated familial adenomatous polyposis (AFAP) or gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). A genetic analysis demonstrated that he had a frameshift variant at codon 1928 of APC, suggesting AFAP. In this era of less Helicobacter pylori infection and frequent use of proton pump inhibitors, diagnoses of AFAP and GAPPS should be considered in patients with prominent gastric fundic gland polyposis.
一位 36 岁男性因食管胃十二指肠镜检查被诊断为多发性胃息肉。随后的结肠镜检查发现了两个管状腺瘤,计算机断层扫描显示皮下肿瘤。基于这些发现,我们怀疑胃息肉与 APC 基因有关,要么是衰减型家族性腺瘤性息肉病(AFAP),要么是胃腺癌和胃近端息肉病(GAPPS)。基因分析显示他在 APC 的密码子 1928 处有一个移码变异,提示为 AFAP。在这个幽门螺杆菌感染较少和质子泵抑制剂频繁使用的时代,对于胃底腺息肉明显的患者,应考虑诊断 AFAP 和 GAPPS。