Hereditary multiple exostoses and juvenile colon carcinoma: A case with a common genetic background?
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.
Pata
Giacomo
G
Department of Medical & Surgical Sciences, 1st Division of General Surgery, University of Brescia, 25124 Brescia, Italy. giacomopata@alice.it
Nascimbeni
Riccardo
R
Di Lorenzo
Diego
D
Gervasi
Maria
M
Villanacci
Vincenzo
V
Salerni
Bruno
B
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*
C110774:EXTL3 protein, human; D017351:N-Acetylglucosaminyltransferases