Hereditary Polyposis Syndromes
The polyposis syndromes are a group of clinically distinct, autosomal dominantly inherited disorders characterized by the finding of multiple polyps in the gastrointestinal tract and a predisposition to cancer. There are two groups of syndromes. In the adenomatous polyposis syndromes, the polyps are dysplastic and the risk of colon cancer formation in patients with adenomas approaches 100%. These syndromes have provided key insights into the pathogenesis and genetics of sporadic, non-familial colorectal cancer. The second group is the hamartomatous polyposis syndromes in which mature but non-dysplastic and disorganized tissue characterizes the histology of the polyps. Some patients with hamartomatous syndromes may develop colon cancer, but extra-intestinal cancers may be more common, depending on the syndrome. Familiarity with these syndromes is paramount in patient management. The key management strategies include the surveillance and prevention of known complications of these syndromes. Many of the genes that are linked to these syndromes have now been described, which provides an avenue for genetic testing in individuals with a syndrome, as well as in family members prior to the development of signs of the syndrome.
KeywordsFamilial Adenomatous Polyposis Lynch Syndrome Familial Adenomatous Polyposis Patient Polyposis Syndrome Juvenile Polyp
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