| Theme | Recent advance in diagnosis and management of hereditary colorectal cancer | |
|---|---|---|
| Title | Familial adenomatous polyposis -- Outline and clinical diagnosis | |
| Publish Date | 2013/10 | |
| 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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