title: [A case of Cowden disease with a germline mutation in exon5 of PTEN gene diagnosed based on typical esophageal multiple polypoid lesions observed on a medical checkup].
abstract: A man in his fifties had a medical checkup. Mucosal papillomatosis in his oral cavity and palmoplantar keratosis were observed. Esophagogastroduodenoscopy revealed multiple polypoid lesions both in the esophagus and stomach. In addition, colonoscopy showed schwannoma in the rectum. He underwent an operation for adenomatous goiter. At first his typical esophageal multiple polypoid lesion was a diagnostic cue to Cowden disease (CD). Other clinical findings convinced us that he was suffering from CD. He was, then, diagnosed as CD according to the criteria of International Cowden Consortium although he had no family medical history suspicious of CD. Interestingly, genetic testing revealed that the patient had a germline mutation in exon5 of PTEN on chromosome 10. It was a point mutation of C to T transition at codon130, resulting in nonsense mutation (CGA→TGA). A close follow-up, especially cancer surveillance, is necessary for him since CD is associated with a high risk of developing malignant disease. It is noted that the typical esophageal features can be a diagnostic cue to CD, as shown in the present case.
authors.affiliation: Department of Gastroenterology, Kyushu Medical Center.
authors.forename: Noriko
authors.initials: N
authors.lastname: Sawamura
authors.forename: Naohiko
authors.initials: N
authors.lastname: Harada
authors.forename: Eikichi
authors.initials: E
authors.lastname: Ihara
authors.forename: Kana
authors.initials: K
authors.lastname: Kakigao
authors.forename: Makiko
authors.initials: M
authors.lastname: Sugi
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haraguchi
authors.forename: Takahiro
authors.initials: T
authors.lastname: Mizutani
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Yoshimoto
authors.forename: Ken
authors.initials: K
authors.lastname: Kawabe
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Fukushima
authors.forename: Kunitaka
authors.initials: K
authors.lastname: Fukuizumi
authors.forename: Makoto
authors.initials: M
authors.lastname: Nakamuta
authors.forename: Rie
authors.initials: R
authors.lastname: Yoshimura
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Nakamura
mesh_terms: D004938:Esophageal Neoplasms / Q000473:pathology*; D005091:Exons; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009098:Multiphasic Screening; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D011127:Polyps / Q000473:pathology*
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human