文献

J-GLOBAL ID：201802240850127004   整理番号：18A1913773

Cowden症候群を伴う脊椎硬膜外動静脈瘻:症例報告および病因と治療戦略に関係した文献レビュー

Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy

著者 (12件)： Takei Jun (Department of Neurosurgery, Jikei University Kashiwa Hospital, Kashiwa, Chiba, Japan) ,  Tochigi Satoru (Department of Neurosurgery, Jikei University Kashiwa Hospital, Kashiwa, Chiba, Japan) ,  Arai Masami (Department of Clinical Genetic Oncology, the Cancer Institute Hospital of the Japanese Foundation for Cancer Research, Tokyo, Japan) ,  Tanaka Toshihide (Department of Neurosurgery, Jikei University Kashiwa Hospital, Kashiwa, Chiba, Japan) ,  Kajiwara Ikki (Department of Neurosurgery, Jikei University Kashiwa Hospital, Kashiwa, Chiba, Japan) ,  Hatano Keisuke (Department of Neurosurgery, Jikei University Kashiwa Hospital, Kashiwa, Chiba, Japan) ,  Ichinose Daisuke (Department of Neurosurgery, Jikei University Kashiwa Hospital, Kashiwa, Chiba, Japan) ,  Sakamoto Hiroki (Department of Neurosurgery, Jikei University Kashiwa Hospital, Kashiwa, Chiba, Japan) ,  Hasegawa Yuzuru (Department of Neurosurgery, Jikei University Kashiwa Hospital, Kashiwa, Chiba, Japan) ,  Ishibashi Toshihiro (Department of Neurosurgery, Jikei University School of Medicine, Tokyo, Japan) ,  Tani Satoshi (Department of Neurosurgery, Jikei University School of Medicine, Tokyo, Japan) ,  Murayama Yuichi (Department of Neurosurgery, Jikei University School of Medicine, Tokyo, Japan)
資料名： NMC Case Report Journal (Web)  (NMC Case Report Journal (Web))
巻： 5  号： 4  ページ： 83-85(J-STAGE)  発行年： 2018年 
JST資料番号： U0527A  ISSN： 2188-4226  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： 日本 (JPN)  言語： 英語 (EN)

抄録/ポイント： 血管内手術により治療に成功した,Cowden症候群(CS)と...

シソーラス用語： 遺伝病 ,...
準シソーラス用語： Cowden症候群 ,...

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著者キーワード (5件)： 中枢神経系血管奇形 ,  Cowden症候群 ,  Cowden病 ,  硬膜動静脈瘻 ,  PTEN過誤腫腫瘍症候群

分類 (2件)： 運動器系疾患の外科療法  (GG05030O) ,  循環系疾患の外科療法  (GJ05030X)

引用文献 (13件)：

• 1) Marsh DJ, Kum JB, Lunetta KL, et al.: PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8: 1461-1472, 1999
• 2) Merks JH, de Vries LS, Zhou XP, et al.: PTEN hamartoma tumour syndrome: variability of an entity. J Med Genet 40: e111, 2003
• 3) Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E: Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 105: 1607-1616, 2013
• 4) Nelen MR, Padberg GW, Peeters EA, et al.: Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 13: 114-116, 1996
• 5) Tan WH, Baris HN, Burrows PE, et al.: The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet 44: 594-602, 2007

タイトルに関連する用語 (8件)： Cowden症候群 ,  脊椎 ,  硬膜 ,  動静脈瘻 ,  症例報告 ,  病因 ,  治療戦略 ,  文献レビュー