Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Gut Liver. 2013 Jan;7(1):120-5. doi: 10.5009/gnl.2013.7.1.120. Epub 2013 Jan 11.
Attenuated familial adenomatous polyposis (AFAP) is a variant of familial adenomatous polyposis with fewer than one hundred colorectal polyps and a later age of onset of the cancer. Here, we report two cases of AFAP within family members. Each patient demonstrated the same novel germ line mutation in exon 15 of the adenomatous polyposis coli (APC) gene and was successfully managed with sulindac after refusal to perform colectomy: a 23-year-old man with incidentally diagnosed gastric adenoma and fundic gland polyps underwent colonoscopy, and fewer than 100 colorectal polyps were found; a 48-year-old woman who happened to be the mother of the 23-year-old man also showed fewer than 100 colorectal polyps on colonoscopy. Genetic analysis revealed a novel frameshift mutation in exon 15 of the APC gene. The deletion of adenine-guanine with the insertion of thymine in c.3833-3834 resulted in the formation of stop codon 1,287 in both patients. The patients were treated with sulindac due to their refusal to undergo colectomy. The annual follow-up upper endoscopy and colonoscopy in the following 2 years revealed significant regression of the colorectal polyps in both patients.
家族性腺瘤性息肉病（familial adenomatous polyposis，FAP）是一种具有少于一百个结直肠息肉和更晚癌症发病年龄的家族性腺瘤性息肉病的变异型。在此，我们报告两例家族性腺瘤性息肉病患者。每位患者均在腺瘤性息肉病基因（adenomatous polyposis coli，APC）外显子 15 中表现出相同的新型种系突变，在拒绝进行结肠切除术之后，成功使用舒林酸进行了治疗：一名 23 岁男性因偶然诊断出的胃腺瘤和胃底腺息肉而行结肠镜检查，发现少于 100 个结直肠息肉；一名 48 岁女性是该 23 岁男性的母亲，结肠镜检查也显示少于 100 个结直肠息肉。基因分析显示 APC 基因外显子 15 中存在新型移码突变。c.3833-3834 处腺嘌呤-鸟嘌呤的缺失并插入胸腺嘧啶，导致两位患者均形成 1287 位提前终止密码子。由于患者拒绝进行结肠切除术，故使用舒林酸进行治疗。在接下来的 2 年中，每年的上消化道内镜和结肠镜随访显示两位患者的结直肠息肉均有明显消退。
