Hereditary Hamartomatous Gastrointestinal Polyposis Syndrome

Hamartomas represent localized overgrowth of cells in the parts which are normally associated with polyps, ie. mesenhimal, stromal, endodermal and ectodermal elements. Hamartomatous polyposis syndromes carry a significant risk of developing dysplasia, adenomas, gastrointestinal carcinomas, and pancreatic carcinomas. These syndromes may be classified on the basis of whether they represent hereditary syndromes or whether they occur on a sporadic basis. An overlap has been noticed among some of the syndromes. There have been described eight hereditary, and four non-hereditary hamartomatous poly pos syndromes. Hereditary syndromes include: Hereditary juvenile polyposis syndrome, Cowden syndrome, Bannayan-Ruvalcaba-Riley syndrome, Peutz-Jeghers syndrome, Nevus basal cell syndrome, Hereditary mixed polyposis syndrome, Neurofibromathosis type 1, and Multiple Endocrine Neoplasia type 2B. All of these syndromes are inherited in an autosomal dominant fashion. Non-hereditary syndromes include: Cronkhite-Canada syndrome, hyperplastic polyps, lymphoid polyposis, lymphomatous polyposis. The diagnosis of these syndromes primarily remains a clinical process. Treatment of these patients requires a coordinated multidisciplinary approach which includes gastroenterology, pathology, dermatology, surgery, oncology, and genetics.