PMID- 21950691
OWN - NLM
STAT- MEDLINE
DCOM- 20120711
LR  - 20120307
IS  - 1365-2265 (Electronic)
IS  - 0300-0664 (Linking)
VI  - 76
IP  - 4
DP  - 2012 Apr
TI  - Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a 
      multicentre database.
PG  - 533-9
LID - 10.1111/j.1365-2265.2011.04227.x [doi]
AB  - 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.
CI  - (c) 2012 Blackwell Publishing Ltd.
FAU - Sakurai, Akihiro
AU  - Sakurai A
AD  - Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, 
      Japan. aksakura@shinshu-u.ac.jp
FAU - Suzuki, Shinichi
AU  - Suzuki S
FAU - Kosugi, Shinji
AU  - Kosugi S
FAU - Okamoto, Takahiro
AU  - Okamoto T
FAU - Uchino, Shinya
AU  - Uchino S
FAU - Miya, Akihiro
AU  - Miya A
FAU - Imai, Tsuneo
AU  - Imai T
FAU - Kaji, Hiroshi
AU  - Kaji H
FAU - Komoto, Izumi
AU  - Komoto I
FAU - Miura, Daishu
AU  - Miura D
FAU - Yamada, Masanobu
AU  - Yamada M
FAU - Uruno, Takashi
AU  - Uruno T
FAU - Horiuchi, Kiyomi
AU  - Horiuchi K
FAU - Miyauchi, Akira
AU  - Miyauchi A
FAU - Imamura, Masayuki
AU  - Imamura M
CN  - MEN Consortium of Japan
FAU - Fukushima, Toshihiko
AU  - Fukushima T
FAU - Hanazaki, Kazuhiro
AU  - Hanazaki K
FAU - Hirakawa, Shohei
AU  - Hirakawa S
FAU - Igarashi, Takehito
AU  - Igarashi T
FAU - Iwatani, Tsuguo
AU  - Iwatani T
FAU - Kammori, Makoto
AU  - Kammori M
FAU - Katabami, Takuyuki
AU  - Katabami T
FAU - Katai, Miyuki
AU  - Katai M
FAU - Kikumori, Toyone
AU  - Kikumori T
FAU - Kiribayashi, Kazuyo
AU  - Kiribayashi K
FAU - Koizumi, Shigeki
AU  - Koizumi S
FAU - Midorikawa, Sanae
AU  - Midorikawa S
FAU - Miyabe, Rika
AU  - Miyabe R
FAU - Munekage, Takuya
AU  - Munekage T
FAU - Ozawa, Atsushi
AU  - Ozawa A
FAU - Shimizu, Kazuo
AU  - Shimizu K
FAU - Sugitani, Iwao
AU  - Sugitani I
FAU - Takeyama, Hiroshi
AU  - Takeyama H
FAU - Yamazaki, Masanori
AU  - Yamazaki M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Clin Endocrinol (Oxf)
JT  - Clinical endocrinology
JID - 0346653
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - Hyperparathyroidism, Primary/diagnosis/epidemiology/genetics/mortality
MH  - Japan/epidemiology
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/epidemiology/genetics/mortality
MH  - Neuroendocrine Tumors/diagnosis/epidemiology/genetics/mortality
MH  - Pituitary Neoplasms/diagnosis/epidemiology/genetics/mortality
MH  - Young Adult
EDAT- 2011/09/29 06:00
MHDA- 2012/07/12 06:00
CRDT- 2011/09/29 06:00
PHST- 2011/09/29 06:00 [entrez]
PHST- 2011/09/29 06:00 [pubmed]
PHST- 2012/07/12 06:00 [medline]
AID - 10.1111/j.1365-2265.2011.04227.x [doi]
PST - ppublish
SO  - Clin Endocrinol (Oxf). 2012 Apr;76(4):533-9. doi: 
      10.1111/j.1365-2265.2011.04227.x.