title: Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome.
abstract: A 37-year-old man was hospitalised because of anaemia and fatigue due to an infiltrating adenocarcinoma of the Treitz angle (duodenum), together with gastric, duodenal and colorectal polyps. After the operation, removal of colorectal lesions revealed the presence of ganglioneuromatosis of the large bowel. Further investigations showed lack of MLH1 protein expression and microsatellite instability in the duodenal neoplasm, while the gene was normally expressed in the polyps. MLH1 sequence and Multiple Ligation-dependent Probes Amplification analysis (from constitutional DNA) were normal. Analysis of the PTEN gene revealed the presence of a constitutional mutation (c.510 T>A; p.Ser170Arg) which had been associated with the Cowden phenotype. Further detailed clinical investigations revealed macrocephaly (63 cm), melanotic spots of the penis, small angiomas, millimetric trichilemmomas in the nose and multiple lipomas, which led to the diagnosis of Cowden/Bannayan disease. The unusual appearance of a duodenal carcinoma as the first symptom rendered the identification of the syndrome extremely difficult.
authors.affiliation: Department of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy. deleon@unimore.it
authors.forename: Maurizio Ponz
authors.initials: MP
authors.lastname: de Leon
authors.forename: Carmela
authors.initials: C
authors.lastname: Di Gregorio
authors.forename: Laura
authors.initials: L
authors.lastname: Giunti
authors.forename: Luca
authors.initials: L
authors.lastname: Roncucci
authors.forename: Monica
authors.initials: M
authors.lastname: Pedroni
authors.forename: Antonela Camelia
authors.initials: AC
authors.lastname: Tinca
authors.forename: Francesca
authors.initials: F
authors.lastname: Crucianelli
authors.forename: Rossella
authors.initials: R
authors.lastname: Tricarico
authors.forename: Maurizio
authors.initials: M
authors.lastname: Genuardi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics / Q000378:metabolism; D000230:Adenocarcinoma / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D000328:Adult; D017024:Chemotherapy, Adjuvant; D004379:Duodenal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D016145:Endoscopy, Digestive System; D015870:Gene Expression; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007417:Intestinal Polyps / Q000209:etiology* / Q000601:surgery; D008297:Male; D053842:Microsatellite Instability; D000070957:MutL Protein Homolog 1; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D051059:PTEN Phosphohydrolase / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human; D000070957:MutL Protein Homolog 1