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Affected individuals have an increased risk of colorectal cancer, precancerous colon polyps and an increased risk of several additional cancers. About 1–2 percent of the population possess a mutated copy of the MUTYH gene, and less than 1 percent of people have the MUTYH-associated polyposis syndrome.
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when they are left untreated.
Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. [3] The extracolonic tumors may include osteomas of the skull, thyroid cancer , epidermoid cysts , fibromas , [ 4 ] as well as the occurrence of desmoid tumors in approximately 15% of ...
The serrated polyposis syndrome (SPS) is a relatively rare condition characterized by multiple and/or large serrated polyps of the colon. Serrated polyps include SSLs, hyperplastic polyps, and traditional serrated adenomas. Diagnosis of this disease is made by the fulfillment of any of the World Health Organization's (WHO) clinical criteria. [4]
A polyp is an abnormal growth of tissue projecting from a mucous membrane. If it is attached to the surface by a narrow elongated stalk, it is said to be pedunculated; if it is attached without a stalk, it is said to be sessile. Polyps are commonly found in the colon, stomach, nose, ear, sinus(es), urinary bladder, and uterus.
Solitary juvenile polyps most commonly occur in the rectum and present with rectal bleeding. The World Health Organization criteria for diagnosis of juvenile polyposis syndrome are one of either: More than five juvenile polyps in the colon or rectum; or; Juvenile polyps throughout the gastrointestinal tract; or
Traditional serrated adenoma seen under microscopy with H&E stain, showing serrated crypts. SPS may occur with one of two phenotypes: distal or proximal. [6] The distal phenotype may demonstrate numerous small polyps in the distal colon and rectum, whereas the proximal phenotype may be characterized by relatively fewer, but larger polyps in the proximal colon (cecum, ascending colon, etc.). [6]
A colorectal polyp is a polyp (fleshy growth) occurring on the lining of the colon or rectum. [1] Untreated colorectal polyps can develop into colorectal cancer. [2] Colorectal polyps are often classified by their behaviour (i.e. benign vs. malignant) or cause (e.g. as a consequence of inflammatory bowel disease).