| 特集名 | 遺伝性大腸癌の診断と治療の進歩 | |
|---|---|---|
| 題名 | 家族性大腸腺腫症 (1) 疾患の概要と診断 | |
| 発刊年月 | 2013年 10月 | |
| 著者 | 小泉 浩一 | がん・感染症センター都立駒込病院消化器内科 |
| 【 要旨 】 | 家族性大腸腺腫症（familial adenomatous polyposis；FAP）は大腸腺腫が多発し，高率に大腸癌が発生するAPC遺伝子変異に起因する常染色体優性の遺伝性疾患である．その表現型から密生型，非密生型，散発型に分類され，腺腫や癌の発生年齢が異なる．内視鏡検査で100個以上の腺腫を認めることが診断の基本であるが，腺腫の形態や分布などの表現型は家系，年齢によりさまざまな病態をとることに留意する．また，十二指腸腫瘍，デスモイドなど他臓器にも腫瘍が発生する．臨床的特徴を理解して早期診断で至適な治療戦略を考える必要がある． | |
| Theme | Recent advance in diagnosis and management of hereditary colorectal cancer | |
|---|---|---|
| Title | Familial adenomatous polyposis -- Outline and clinical diagnosis | |
| Author | Koichi Koizumi | Department of Gastroenterology, Tokyo Metropolitan Cancer and Infectious Disease Center Komagome Hospital |
| [ Summary ] | Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease caused by mutations in the APC gene. It is characterised by the development of hundreds to thousands of adenomas in the colorectum, predisposing the patient to colorectal cancer. Colorectal polyposis is generally classified under three categories, the classic type (100-2,000 polyps), the severe or profuse type (>2,000 polyps), and the attenuated type (<100 polyps). These phenotypes are correlated with a mutation site in the APC gene, the age at time of cancer development. The prognosis and life expectancy are different for each phenotype. Adenomatous polyps also develop in the upper gastrointestinal tract, especially in the duodenum, and some adenomas progress to malignancy. In addition, Desmoid tumours can lead to life threatening complications. In order to manage this syndrome, early diagnosis and discussion of therapeutic strategies are important. |
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