Neurological Surgery 脳神経外科50巻3号

2022年05月発行

特集 一生使える頭蓋底外科の“知”と“技”—〔特別付録Web動画付き〕 Ⅱ頭蓋底外科手術に必要な解剖・生理・病理の知識

神経線維腫症2型の分子生物学的背景

著者： 宮脇哲¹ 寺西裕¹ 齊藤延人¹

所属機関： ¹東京大学医学部脳神経外科

ページ範囲：P.572 - P.577

Point
・神経線維腫症2型（NF2）は両側の聴神経腫瘍，多発神経鞘腫，多発髄膜腫を特徴とした難治性疾患である．
・NF2の半数は家族性に発症することが知られており，常染色体顕性遺伝（優性遺伝）の遺伝形式をとり，患者はNF2遺伝子のgermline mutationを有する．
・NF2遺伝子のgermline mutationが認められない症例の大部分にNF2遺伝子の体細胞モザイクがかかわっていると考えられている．
・NF2遺伝子の遺伝子型は生命予後や機能予後と関連する．

参考文献

1）公益財団法人 難病医学研究財団/難病情報センター：神経線維腫症Ⅱ型（指定難病34）．　https://www.nanbyou.or.jp/entry/275（2022年4月22日アクセス）

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