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
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.
We performed the first Japanese nationwide questionnaire survey on CS, and obtained questionnaire response data on 49 CS patients.
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.
Our data suggest that Japanese patients with CS, particularly female patients and patients with C2 domain variant may have a high risk of cancers.
International Journal of Clinical Oncology
Japan Society of Clinical Oncology|Springer
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