論文

査読有り
2017年2月

Development of Database and Genomic Medicine for von Hippel-Lindau Disease in Japan

NEUROLOGIA MEDICO-CHIRURGICA
  • Shunsaku Takayanagi
  • ,
  • Akitake Mukasa
  • ,
  • Hirofumi Nakatomi
  • ,
  • Hiroshi Kanno
  • ,
  • Jun-ichi Kuratsu
  • ,
  • Ryo Nishikawa
  • ,
  • Kazuhiko Mishima
  • ,
  • Atushi Natsume
  • ,
  • Toshihiko Wakabayashi
  • ,
  • Kiyohiro Houkin
  • ,
  • Shunsuke Terasaka
  • ,
  • Masahiro Yao
  • ,
  • Nobuo Shinohara
  • ,
  • Taro Shuin
  • ,
  • Nobuhito Saito

57
2
開始ページ
59
終了ページ
65
記述言語
英語
掲載種別
DOI
10.2176/nmc.ra.2016-0206
出版者・発行元
JAPAN NEUROSURGICAL SOC

von Hippel-Lindau (VHL) disease is a hereditary tumor disease in which tumors develop in multiple organs, not only as hemangioblastomas (HBs) in the central nervous system, but also as kidney tumors, pheochromocytomas, and so on. Much about the epidemiology of VHL disease remained unknown until fairly recently in Japan, leading to calls for the establishment of a VHL disease epidemiological database in Japanese. To elucidate its epidemiology in Japan, the Japanese Ministry of Health, Labour and Welfare created the VHL Disease Study Group, which was put in charge of carrying out a nationwide epidemiological survey. The survey found close to 400 Japanese VHL disease patients throughout the country. Based on those results, the VHL Disease Study Group created the VHL Disease Treatment Guideline and also a severity classification. It is thought that the prognosis of VHL disease patients can be improved by performing genetic diagnosis and careful follow-up. Accordingly, the University of Tokyo Hospital put in place an in-hospital system for implementing genomic medicine for VHL disease based on genetic diagnosis. For that system, it was especially important to establish (I) accurate genetic diagnostic techniques, (II) genetic counseling capabilities for the patients and their families, and (III) a system of cooperation among multiple departments, including urology departments, and so on. Further elucidation of the epidemiology and the development of genomic medicine are needed to improve the treatment results of VHL disease in Japan.

Web of Science ® 被引用回数 : 2

リンク情報
DOI
https://doi.org/10.2176/nmc.ra.2016-0206
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/28070114
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000396088000001&DestApp=WOS_CPL

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