抄録
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.
| 元の言語 | 英語 |
|---|---|
| ページ（範囲） | 593-599 |
| ページ数 | 7 |
| ジャーナル | Journal of Japanese Society of Gastroenterology |
| 巻 | 109 |
| 発行部数 | 4 |
| 出版物ステータス | 出版済み - 4 1 2012 |
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All Science Journal Classification (ASJC) codes
- Gastroenterology
これを引用
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. / Sawamura, Noriko; Harada, Naohiko; Ihara, Eikichi; Kakigao, Kana; Sugi, Makiko; Haraguchi, Kazuhiro; Mizutani, Takahiro; Yoshimoto, Tsuyoshi; Kawabe, Ken; Fukushima, Nobuyoshi; Fukuizumi, Kunitaka; Nakamuta, Makoto; Yoshimura, Rie; Nakamura, Kazuhiko.
：: Journal of Japanese Society of Gastroenterology, 巻 109, 番号 4, 01.04.2012, p. 593-599.研究成果: ジャーナルへの寄稿 › 記事
}
TY - JOUR
T1 - 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
AU - Sawamura, Noriko
AU - Harada, Naohiko
AU - Ihara, Eikichi
AU - Kakigao, Kana
AU - Sugi, Makiko
AU - Haraguchi, Kazuhiro
AU - Mizutani, Takahiro
AU - Yoshimoto, Tsuyoshi
AU - Kawabe, Ken
AU - Fukushima, Nobuyoshi
AU - Fukuizumi, Kunitaka
AU - Nakamuta, Makoto
AU - Yoshimura, Rie
AU - Nakamura, Kazuhiko
PY - 2012/4/1
Y1 - 2012/4/1
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=84859628948&partnerID=8YFLogxK
M3 - Article
VL - 109
SP - 593
EP - 599
JO - Japanese Journal of Gastroenterology
JF - Japanese Journal of Gastroenterology
SN - 0446-6586
IS - 4
ER -