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Polyposis Coli

  • Polyposis Coli are a family of etiologically-related hereditary disorders characterized by the development of hundreds to thousands colorectal adenomas within the large intestine and rectum. Polyposis Coli are all caused by lesions of the APC tumor suppressor and diseases are inherited in an autosomal dominant pattern. This pattern of inheritance occurs because hereditary lesion in one allele of APC virtually guarantees the other allele will become spontaneously mutated. Different subtypes of this disease have been defined as described below which are characterized by unique constellations of additional clinical features. However, pateints with any subtype of Polyposis Coli are almost garaunteed to develop colorectal carcinoma by their fourth decade and are thus treated with total colectomy prior to this age.
  • Familial Adenomatous Polyposis (FAP) Syndrome: No additional features
  • Gardner's Syndrome: Patients tend to develop osteomas, fibromas, and lipomas
  • Turcot's Syndrome: Patients tend to develop brain tumors especially medulloblastomas or glioblastomas