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ID 117152
Title Alternative
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
Author
Teramae, Satoshi Tokushima University
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
Tanaka, Kumiko Tokushima University
Ishikawa, Hideki Kyoto Prefectural University of Medicine
Sonoda, Tomoko Sapporo Medical University
Keywords
Cowden
PTEN
hamartoma
cancer
Cowden syndrome
genotype-phenotype correlation
Content Type
Thesis or Dissertation
Description
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.
Journal Title
International Journal of Clinical Oncology
ISSN
13419625
14377772
NCID
AA11086579
Publisher
Japan Society of Clinical Oncology|Springer
Volume
27
Issue
4
Start Page
639
End Page
647
Published Date
2022-02-02
Remark
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。
論文本文は2023-02-02以降公開予定
Rights
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
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
jpn
TextVersion
その他
MEXT report number
甲第3639号
Diploma Number
甲医第1534号
Granted Date
2022-04-28
Degree Name
Doctor of Medical Science
Grantor
Tokushima University
departments
University Hospital
Medical Sciences