title: Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database.
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.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
authors.affiliation: Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. aksakura@shinshu-u.ac.jp
authors.forename: Akihiro
authors.initials: A
authors.lastname: Sakurai
authors.forename: Shinichi
authors.initials: S
authors.lastname: Suzuki
authors.forename: Shinji
authors.initials: S
authors.lastname: Kosugi
authors.forename: Takahiro
authors.initials: T
authors.lastname: Okamoto
authors.forename: Shinya
authors.initials: S
authors.lastname: Uchino
authors.forename: Akihiro
authors.initials: A
authors.lastname: Miya
authors.forename: Tsuneo
authors.initials: T
authors.lastname: Imai
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kaji
authors.forename: Izumi
authors.initials: I
authors.lastname: Komoto
authors.forename: Daishu
authors.initials: D
authors.lastname: Miura
authors.forename: Masanobu
authors.initials: M
authors.lastname: Yamada
authors.forename: Takashi
authors.initials: T
authors.lastname: Uruno
authors.forename: Kiyomi
authors.initials: K
authors.lastname: Horiuchi
authors.forename: Akira
authors.initials: A
authors.lastname: Miyauchi
authors.forename: Masayuki
authors.initials: M
authors.lastname: Imamura
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Fukushima
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Hanazaki
authors.forename: Shohei
authors.initials: S
authors.lastname: Hirakawa
authors.forename: Takehito
authors.initials: T
authors.lastname: Igarashi
authors.forename: Tsuguo
authors.initials: T
authors.lastname: Iwatani
authors.forename: Makoto
authors.initials: M
authors.lastname: Kammori
authors.forename: Takuyuki
authors.initials: T
authors.lastname: Katabami
authors.forename: Miyuki
authors.initials: M
authors.lastname: Katai
authors.forename: Toyone
authors.initials: T
authors.lastname: Kikumori
authors.forename: Kazuyo
authors.initials: K
authors.lastname: Kiribayashi
authors.forename: Shigeki
authors.initials: S
authors.lastname: Koizumi
authors.forename: Sanae
authors.initials: S
authors.lastname: Midorikawa
authors.forename: Rika
authors.initials: R
authors.lastname: Miyabe
authors.forename: Takuya
authors.initials: T
authors.lastname: Munekage
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ozawa
authors.forename: Kazuo
authors.initials: K
authors.lastname: Shimizu
authors.forename: Iwao
authors.initials: I
authors.lastname: Sugitani
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takeyama
authors.forename: Masanori
authors.initials: M
authors.lastname: Yamazaki
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D005820:Genetic Testing; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000401:mortality; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000401:mortality; D018358:Neuroendocrine Tumors / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000401:mortality; D010911:Pituitary Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000401:mortality; D055815:Young Adult