Hereditary Polyposis Syndromes

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