Neurological Surgery 脳神経外科50巻1号

2022年01月発行

特集 Precision Medicine—個別化医療を目指した遺伝子診断と新治療の知見 Ⅱ良性脳腫瘍

神経線維腫症2型—Precision medicineの最新情報

著者： 蛭田亮¹ 藤井正純¹

所属機関： ¹福島県立医科大学医学部脳神経外科学講座

ページ範囲：P.150 - P.161

Point
・神経線維腫症2型は，腫瘍抑制遺伝子であるNF2の異常によりmerlin蛋白の発現が障害された結果発症する．
・半数以上は体細胞モザイクによる孤発例と考えられ，複数組織のディープシークエンスにより診断能が向上することが期待される．
・現在，VEGFに対する分子標的薬であるベバシズマブや，VEGF受容体に対するペプチドワクチンを用いた臨床試験が行われている．

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