ヒッペル・リンダウ病 (Hippel-Lindau disease) とは,ヒッペル・リンダウ病 (Hippel-Lindau disease) とは,ヒッペル・リンダウ病 (Hippel-Lindau disease)
Russell R Lonser1, Gladys M Glenn, McClellan Walther
1Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1414, USA. lonserr@ninds.nih.gov
Lancet (London, England)
|June 20, 2003
まとめ
フォン・ヒッペル・リンダウ病は,VHL遺伝子変異によって引き起こされる希少で遺伝性がん症候群です. それは様々な腫瘍のリスクを高め,罹患した個人に多学科的な管理を必要とします.
科学分野:
- 遺伝学 遺伝学とは
- 腫瘍学 腫瘍学
- 遺伝性がん症候群 遺伝性がん症候群について
背景:
- フォン・ヒッペル・リンダウ病 (VHL) は,自己相支配的疾患である.
- それは,染色体3pのVHL腫瘍抑制遺伝子における生殖系変異から生じる.
- VHL疾患は複数の臓器系に影響を与え,がんのリスクを増やす.
研究 の 目的:
- フォン・ヒッペル・リンダウ病の包括的な概要を提供するために.
- 臨床的表れや管理戦略を詳細に説明する.
- VHL関連腫瘍の現在の治療方法を概説する.
主な方法:
- 臨床的側面,管理,治療に関する文献レビュー.
- VHL疾患の疫学と遺伝学に関する情報の統合.
- 診断基準と監視プロトコルの概要
主要な成果:
- VHL疾患は,約3万6千人の生児のうち約1人に発症する.
- 個人は,中枢神経系,腎臓,副腎,臓,生殖器官の良性および悪性腫瘍に罹患する傾向があります.
- 管理は,腫瘍の多様性のために多学科的なアプローチを必要とします.
結論:
- フォン・ヒッペル・リンダウ病は,重要な遺伝性がん症候群である.
- 早期診断と多学科的ケアは,VHL疾患の管理に不可欠です.
- 現在進行中の研究は,VHL関連腫瘍の治療結果を改善することを目的としています.
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