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

—結節性硬化症に伴う—上衣下巨細胞性星細胞腫

著者： 市川智継¹ 新井田要²

所属機関： ¹香川県立中央病院脳神経外科 ²金沢医科大学総合医学研究所先端医療研究領域ゲノム疾患研究分野

ページ範囲：P.111 - P.121

Point
・上衣下巨細胞性星細胞腫（SEGA）は，結節性硬化症（TSC）患者に特異的に発生する脳腫瘍である．
・TSC1遺伝子またはTSC2遺伝子の異常によりmTORが活性化されることが発症の原因である．
・治療薬としてmTOR阻害薬の有効性が示されている．

参考文献

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