ID | 117152 |
タイトル別表記 | カウデン症候群の日本人症例における発癌リスクと遺伝子型-表現型との関連について
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著者 |
寺前, 智史
徳島大学大学院医学研究科(医学専攻)
Oseto, Kumiko
Nagoya City University
Nishikawa, Ryutaro
Nagoya City University
Tanoue, Takayuki
University of Occupational and Environmental Health
Hirata, Keiji
University of Occupational and Environmental Health
Yanai, Shunichi
Iwate Medical University
Matsumoto, Takayuki
Iwate Medical University
Shimizu, Seiji
Osaka General Hospital of West Japan Railway Company
Miwa, Jun
Toshiba Hospital
Sasaki, Yu
Yamagata University
Yashima, Kazuo
Tottori University
Ohnuma, Hiroyuki
Sapporo Medical University
Kitayama, Yoshitaka
Hyogo College of Medicine
Ohda, Yoshio
Hyogo College of Medicine
Yamauchi, Atsushi
Kitano Hospital
Sanomura, Yoji
Hiroshima University
田中, 久美子
Tokushima University
Ishikawa, Hideki
Kyoto Prefectural University of Medicine
Sonoda, Tomoko
Sapporo Medical University
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キーワード | Cowden
PTEN
hamartoma
cancer
Cowden syndrome
genotype-phenotype correlation
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資料タイプ |
学位論文
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抄録 | Background
Cowden syndrome (CS) is an autosomal-dominant hereditary disorder caused by a germline PTEN variant and characterized by multiple hamartomas and a high risk of cancers. However, no detailed data on CS in Asian patients nor genotype-phenotype correlation have been reported. Methods We performed the first Japanese nationwide questionnaire survey on CS, and obtained questionnaire response data on 49 CS patients. Results Patients included 26 females (median age 48 y). The incidence of breast, thyroid, endometrium, and colorectal cancer was 32.7%, 12.2%, 19.2% (among females), and 6.1% respectively. The incidence of any cancers was relatively high among all patients (46.9%, 23/49), and particularly female patients (73.1%, 19/26), compared with previous reports from Western countries. Gastrointestinal (GI) polyps were more frequently found throughout the GI tract compared with previous studies. PTEN variants were detected in 95.6% (22/23) of patients; 12 in the N-terminal region (11 in phosphatase domain) and 10 in the C-terminal (C2 domain) region. The incidence of cancer in the C2 domain group was significantly higher than in the N-terminal region (phosphatase) group. All female patients with C2 domain variant had breast cancer. Conclusion Our data suggest that Japanese patients with CS, particularly female patients and patients with C2 domain variant may have a high risk of cancers. |
掲載誌名 |
International Journal of Clinical Oncology
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ISSN | 13419625
14377772
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cat書誌ID | AA11086579
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出版者 | Japan Society of Clinical Oncology|Springer
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巻 | 27
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号 | 4
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開始ページ | 639
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終了ページ | 647
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発行日 | 2022-02-02
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備考 | 内容要旨・審査要旨・論文本文の公開
本論文は,著者Satoshi Teramaeの学位論文として提出され,学位審査・授与の対象となっている。 This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use (https://www.springernature.com/gp/open-research/policies/accepted-manuscript-terms), but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: https://doi.org/10.1007/s10147-022-02116-w |
EDB ID | |
出版社版DOI | |
出版社版URL | |
フルテキストファイル | |
言語 |
eng
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著者版フラグ |
博士論文全文を含む
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文科省報告番号 | 甲第3639号
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学位記番号 | 甲医第1534号
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学位授与年月日 | 2022-04-28
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学位名 |
博士(医学)
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学位授与機関 |
徳島大学
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部局 |
病院
医学系
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