Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database.
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Sakurai Akihiro, Suzuki Shinichi, Kosugi Shinji, Okamoto Takahiro, Uchino Shinya, Miya Akihiro, Imai Tsuneo, Kaji Hiroshi, Komoto Izumi, Miura Daishu, Yamada Masanobu, Uruno Takashi, Horiuchi Kiyomi, Miyauchi Akira, Imamura Masayuki, MEN Consortium of Japan, Fukushima Toshihiko, Hanazaki Kazuhiro, Hirakawa Shohei, Igarashi Takehito, Iwatani Tsuguo, Kammori Makoto, Katabami Takuyuki, Katai Miyuki, Kikumori Toyone, Kiribayashi Kazuyo, Koizumi Shigeki, Midorikawa Sanae, Miyabe Rika, Munekage Takuya, Ozawa Atsushi, Shimizu Kazuo, Sugitani Iwao, Takeyama Hiroshi, Yamazaki Masanori
Аннотация
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.