Multiple endocrine neoplasia type 1 in Japan: Establishment and analysis of a multicentre database

Akihiro Sakurai, Shinichi Suzuki, Shinji Kosugi, Takahiro Okamoto, Shinya Uchino, Akihiro Miya, Tsuneo Imai, Hiroshi Kaji, Izumi Komoto, Daishu Miura, Masanobu Yamada, Takashi Uruno, Kiyomi Horiuchi, Akira Miyauchi, Masayuki Imamura, Toshihiko Fukushima, Kazuhiro Hanazaki, Shohei Hirakawa, Takehito Igarashi, Tsuguo IwataniMakoto Kammori, Takuyuki Katabami, Miyuki Katai, Toyone Kikumori, Kazuyo Kiribayashi, Shigeki Koizumi, Sanae Midorikawa, Rika Miyabe, Takuya Munekage, Atsushi Ozawa, Kazuo Shimizu, Iwao Sugitani, Hiroshi Takeyama, Masanori Yamazaki

Research output: Contribution to journalArticlepeer-review

76 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)533-539
Number of pages7
JournalClinical Endocrinology
Volume76
Issue number4
DOIs
Publication statusPublished - Apr 2012
Externally publishedYes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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