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要旨 代表的な遺伝性大腸癌に家族性大腸腺腫症(FAP)と遺伝性非ポリポーシス大腸癌(HNPCC)がある.FAPはほぼ全例に大腸癌を生じるが,大腸病変に対する治療のみならず,主な死亡原因であるデスモイド腫瘍や十二指腸癌に対する治療・サーベイランスを含めた生涯にわたる診療が必要となる.HNPCCでは大腸癌だけでなく子宮,卵巣,胃などにおける発癌リスクも高く,症例を正しく識別しサーベイランスを行うことが重要である.
Familial adenomatous polyposis(FAP)and hereditary non-polyposis colorectal cancer(HNPCC)represent most common, highly penetrant hereditary cancer syndromes. Colorectal cancers develop in almost all FAP patients throughout their lifetime. Attention should be also paid for desmoid tumors and duodenal cancers, which are two major causes of death in FAP patients, beside colorectal cancers. In HNPCC patients, risk of cancer development is also very high in organs other than the large intestine, such as uterus, ovary and stomach. Thus, the recognition of HNPCC patients and cancer surveillance for them are quite important.
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