title: Hereditary multiple exostoses and juvenile colon carcinoma: A case with a common genetic background?
abstract: A case of obstructing colon cancer is described in a 31-year-old patient affected by hereditary multiple exostoses. The association of these two rare conditions, which has never been described previously, and their early onset prompt us to discuss the clinical and genetic elements of a potential common pathogenic scenario.
authors: Department of Medical & Surgical Sciences, 1st Division of General Surgery, University of Brescia, 25124 Brescia, Italy. giacomopata@alice.it
authors: Giacomo
authors: G
authors: Pata
authors: Riccardo
authors: R
authors: Nascimbeni
authors: Diego
authors: D
authors: Di Lorenzo
authors: Maria
authors: M
authors: Gervasi
authors: Vincenzo
authors: V
authors: Villanacci
authors: Bruno
authors: B
authors: Salerni
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution; D002851:Chromatography, High Pressure Liquid; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D006801:Humans; D007415:Intestinal Obstruction / Q000209:etiology; D008207:Lymphatic Metastasis; D008297:Male; D020125:Mutation, Missense; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D012811:Sigmoid Neoplasms / Q000235:genetics*
chemical_list: C110774:EXTL3 protein, human; D017351:N-Acetylglucosaminyltransferases