Familial adenomatous polyposis APC
Familial adenomatous polyposis (FAP)
Updated: 03/02/2021
© Jun Wang, MD, PhD
General features
- Autosomal dominant
- Mutation of adenomatous polyposis coli (APC) gene
- Polyps start growing in teenagers
- 100% progress to colonic adenocarcinoma, often in teens, most by thirties
- Higher risk for carcinoma of thyroid, gallbladder, adrenal glands
- May have desmoid tumors (Gardner syndrome)
Clinical presentations
- Numerous colon polyps
- Polyps may be seen in other organs, such as stomach and small intestine
Pathological features
- Primarily tubular adenoma
- Severe dysplasia at early age
Genetic abnormalities
Pathogenesis
- APC mutation associated beta-catenin translocation to nuclei, activating transcriptions
- Suspicious presentations
- Cumulative 10 or more colorectal adenomas
- Colorectal adenoma with extracolic features of FAP
- Genetic testing for APC or MYH
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