PDF(Pubmed)
Abstract：
Familial adenomatous polyposis (FAP) is characterized by hundreds of colonic adenomatous polyps and extraintestinal manifestations beginning in adolescence and early adulthood. It is also one of the most common hereditary colorectal cancer syndromes. In this case study, a rare phenotype of FAP associated with diffuse gastric polyposis, colon oligo-polyposis, and a massive retroperitoneal mass is described. The results expand on the current body of knowledge of FAP and may represent a new phenotypic expression of FAP. Accurate evidence-based surveillance and management recommendations for this disease require further research and evaluation.
摘要：
家族性腺瘤性息肉病（FAP）的特征是数百种结肠腺瘤性息肉和肠外表现，始于青春期和成年早期。它也是最常见的遗传性结直肠癌综合征之一。在这个案例研究中,一种罕见的FAP表型与弥漫性胃息肉病相关，结肠低聚息肉病,描述了一个巨大的腹膜后肿块。该结果扩展了FAP的现有知识体系，并可能代表了FAP的新表型表达。该疾病的准确循证监测和管理建议需要进一步研究和评估。
