家族性大腸腺腫症―家族性大腸腺腫症の長期経過

Long-term History in Familial Adenomatous Polyposis

要旨　自験家族性大腸腺腫症（FAP）91例の診断時消化管徴候，および長期経過観察中における消化管病変の推移と悪性腫瘍を遡及的に検討し，APC遺伝子型と対比した．その結果，密生型大腸腺腫症，十二指腸非乳頭部腺腫が3´側変異群に高率に発生しており，遺伝子型と臨床徴候の関係が示唆された．一方，3´側変異群で胃腺腫と残存直腸腺腫の進行例が多かった．また，大腸癌以外の悪性腫瘍として，3´側変異群で肝細胞芽腫と致死的デスモイドがみられたが，そのほかの悪性腫瘍は3群で有意差なくほぼ均等に発生していた．以上より，FAPにおいて臨床徴候と腸管病変の推移はAPCの遺伝子型の影響を受けるが，本症の長期管理では遺伝子型に関係なく全身のサーベイランスが必要と考えられた．

　We investigated phenotypic features and clinical courses in 91 patients with FAP（familial adenomatous polyposis）and correlated them with APC（adenomatous polyposis coli gene）genotype. As a result, profuse colorectal adenomatosis, and duodenal adenomatosis were most frequently found in patients with 3´ mutation of APC. In addition, gastric adenomatosis and adenomatosis in the rectal remnant were more progressive in patients with 3´ mutation of APC than in the other patients. Hepatoblastomas and lethal desmoid tumors occurred more frequently in patients with 3´ mutation of the APC. However, other malignant neoplasms occurred regardless of the type of APC muation. Our findings suggest that in patients with FAP, genotype affects phenotypic features and clinical courses of the intestinal lesions. However, there is a need for intensive and systemic surveillance for FAP, regardless of the genotype.