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Relatively little is known on the genotype-phenotype correlations between SMAD4 gene mutations, juvenile polyposis of the intestine and Hereditary Hemorrhagic Teleangectasia. We describe a family in which the proband (a 46-year old woman) had massive polyposis of the stomach—leading to surgery—with high-grade dysplasia at histology. Molecular analysis was carried out using Next Generation sequencing...
Adenomas presenting in colon and rectum require different strategies. Those in the rectum are accessible to local endoanal excision while those in the colon can be removed by endoscopic polypectomy. Essentially the decision in both cases centres around the risk of malignancy. Does the tumour itself contain a focus of malignancy? Where invasion has been demonstrated in the tumour, are the regional...
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