TY - JOUR
T1 - Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome
AU - De Leon, Maurizio Ponz
AU - Di Gregorio, Carmela
AU - Giunti, Laura
AU - Roncucci, Luca
AU - Pedroni, Monica
AU - Tinca, Antonela Camelia
AU - Crucianelli, Francesca
AU - Tricarico, Rossella
AU - Genuardi, Maurizio
PY - 2013
Y1 - 2013
N2 - 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. (C) 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
AB - 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. (C) 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
KW - CANCER
KW - COWDENS DISEASE
KW - EXPRESSION
KW - FAMILIAL ADENOMATOUS POLYPOSIS
KW - GASTROINTESTINAL POLYPS
KW - GENE
KW - GERMLINE MUTATIONS
KW - PTEN MUTATION CARRIERS
KW - RILEY-RUVALCABA-SYNDROME
KW - SURVEILLANCE
KW - CANCER
KW - COWDENS DISEASE
KW - EXPRESSION
KW - FAMILIAL ADENOMATOUS POLYPOSIS
KW - GASTROINTESTINAL POLYPS
KW - GENE
KW - GERMLINE MUTATIONS
KW - PTEN MUTATION CARRIERS
KW - RILEY-RUVALCABA-SYNDROME
KW - SURVEILLANCE
UR - http://hdl.handle.net/10807/56970
U2 - 10.1016/j.dld.2012.09.017
DO - 10.1016/j.dld.2012.09.017
M3 - Article
SN - 1590-8658
VL - 45
SP - 75
EP - 78
JO - Digestive and Liver Disease
JF - Digestive and Liver Disease
ER -
