家族性腺瘤性息肉病最早于1882年由Cripps首先描写并命名,后来的研究表明其大肠息肉具有高度恶性倾向并证明为常染色体显性遗传性疾病。Gardner和Turcot又分别发现并有大肠外甚至中枢神经系统的病变而各自命名为相应的“综合征”。尽管合并有肠外病变的患者的转归各有不同,但其遗传表现、组织病理类型及临床特征都相同。因此,从临床诊治的角度可以把这些病人归为同一类疾病。 Familial adenomatous polyposis was first described and named by Cripps in 1882. Subsequent studies showed that colorectal polyps have a high degree of malignancy and proved to be autosomal dominant genetic diseases. Gardner and Turcot discovered and had lesions outside the large intestine and even the central nervous system, and each was named the corresponding “syndrome.” Although the outcome of patients with extra-intestinal lesions varies, their genetic performance, histopathological type, and clinical characteristics are the same. Therefore, these patients can be classified as the same disease from the perspective of clinical diagnosis and treatment.