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 Ⅰ悪性脳腫瘍

中枢神経胚細胞腫—個別化医療に向けた病態解明の最前線

著者： 髙見浩数¹ 高柳俊作¹ 田中將太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.39 - P.50

Point
・遺伝子変異解析により，中枢神経胚細胞腫症例の55%においてMAPKとPI3K経路に変異がみつかり，両者は相互排他的であった．ターゲット治療はまだ開発されていない．
・欧米・日本の臨床試験により，ジャーミノーマでは全脳室照射，非ジャーミノーマでは全脳室または局所照射の方向になりつつある．
・腫瘍含有率の高いジャーミノーマ，12p gainのある非ジャーミノーマの予後が不良であることが報告され，今後の層別化治療につながる可能性がある．

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