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• W1548099609 abstract "Objective Multiple endocrine neoplasia type 1 (MEN1) is less well recognized in Asian countries, including Japan, than in the West. The clinical features and optimal management of MEN1 have yet to be clarified in Japan. The aim of this study was to clarify the clinical features of Japanese patients with MEN1. Design/Patients We established a MEN study group designated the ‘MEN Consortium of Japan’ in 2008, and asked physicians and surgeons to provide clinical and genetic information on patients they had treated. Of 680 registered patients, 560 were analysed. Measurements Clinical and genetic features of Japanese patients with MEN1 were examined. Results Primary hyperparathyroidism, gastroenteropancreatic neuroendocrine tumours (GEPNET), and pituitary tumours were seen in 94·4%, 58·6% and 49·6% of patients, respectively. The prevalence of insulinoma was higher in the Japanese than in the West (22%vs 10%). In addition, 37% of patients with thymic carcinoids were women, while most were men in western countries. The MEN1 mutation positive rate was 91·7% in familial cases and only 49·3% in sporadic cases. Eight novel mutations were identified. Despite the availability of genetic testing for MEN1, the application of genetic testing, especially presymptomatic diagnosis for at-risk family members appeared to be insufficient. Conclusions We established the first extensive database for Asian patients with MEN1. Although the clinical features of Japanese patients were similar to those in western countries, there were several characteristic differences between them." @default.
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• W1548099609 date "2012-03-07" @default.
• W1548099609 modified "2023-10-15" @default.
• W1548099609 title "Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database" @default.
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• W1548099609 doi "https://doi.org/10.1111/j.1365-2265.2011.04227.x" @default.
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