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Polymerase proofreading-associated polyposis (PPAP) is an autosomal dominant hereditary cancer syndrome, which is characterized by numerous polyps in the colon and an increased risk of colorectal cancer. [1] It is caused by germline mutations in DNA polymerase ε and δ . [1]
Colonoscopy is the usual diagnostic test of choice as it favours the common right-side location of polyps better than sigmoidoscopy if the mutation is attenuated FAP, [1] and can confirm or allow (a) the actual clinical presentation and any change to the condition, of the 'at risk' individual, (b) quantification of polyps throughout the colon ...
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.
Fundic gland polyposis is a medical syndrome where the fundus and the body of the stomach develop many fundic gland polyps.The condition has been described both in patients with familial adenomatous polyposis (FAP) and attenuated variants (AFAP), and in patients in whom it occurs sporadically.
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]
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]
Barium enema radiograph showing multiple polyps (mostly pedunculated) and at least one large mass at the hepatic flexure coated with contrast in a patient with Peutz–Jeghers syndrome. Some suggestions for surveillance for cancer include the following: [citation needed] Small intestine with small bowel radiography every two years,
The countless polyps in the colon predispose to the development of colon cancer; if the colon is not removed, the chance of colon cancer is considered to be very significant. Polyps may also grow in the stomach, duodenum, spleen, kidneys, liver, mesentery, and small bowel. In a small number of cases, polyps have also appeared in the cerebellum.