Hofgärtner W T, Thorp M, Ramus M W, Delorefice G, Chey W Y, Ryan C K, Takahashi G W, Lobitz J R
Department of Medicine, Providence St. Vincent Medical Center, Portland, Oregon, USA.
Am J Gastroenterol. 1999 Aug;94(8):2275-81. doi: 10.1111/j.1572-0241.1999.01312.x.
Familial adenomatous polyposis (FAP) is a rare autosomal dominant precancerous condition of the colon caused by mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. FAP is characterized by the appearance of innumerable adenomatous polyps throughout the large bowel. Fundic gland polyps are the most common gastric lesion in FAP. It is generally believed that fundic gland polyps have little or no potential for malignant transformation in the population at large, and only a few case reports describe the development of high grade dysplasia or gastric adenocarcinoma associated with diffuse fundic gland polyposis in patients with FAP. We report the second case of gastric adenocarcinoma intimately associated with fundic gland polyposis in a family with an attenuated form of FAP. The patient had undergone routine screening per current guidelines because of his known mutation in the APC gene. This suggests that malignant transformation of fundic gland polyps in patients with FAP occur more frequently than previously believed. Current screening recommendations may not be sufficient for patients with FAP or its attenuated forms.
家族性腺瘤性息肉病（FAP）是一种罕见的常染色体显性遗传性结肠癌前病变，由腺瘤性息肉病 coli（APC）肿瘤抑制基因突变引起。FAP 的特征是在整个大肠出现无数腺瘤性息肉。胃底腺息肉是 FAP 中最常见的胃部病变。一般认为，胃底腺息肉在普通人群中发生恶性转化的可能性很小或没有，仅有少数病例报告描述了 FAP 患者中与弥漫性胃底腺息肉病相关的高级别异型增生或胃腺癌的发生。我们报告了第二例与胃底腺息肉病密切相关的胃腺癌病例，该病例来自一个患有轻度 FAP 的家族。由于已知该患者 APC 基因发生突变，他按照当前指南接受了常规筛查。这表明 FAP 患者胃底腺息肉的恶性转化比以前认为的更频繁。目前的筛查建议可能不足以满足 FAP 患者或其轻度形式患者的需求。
