雑誌文献を検索します。書籍を検索する際には「書籍検索」を選択してください。

Neurological Surgery No Shinkei Geka Volume 50, Issue 1 （January 2022）

Neurological Surgery 脳神経外科 50巻1号（2022年1月発行）

Japanese English

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

小児hemispheric glioma Pediatric Hemispheric Glioma 中野嘉子 ¹ , 市村幸一 ² , 坂本博昭 ^3,4 Yoshiko NAKANO ¹ , Koichi ICHIMURA ² , Hiroaki SAKAMOTO ^3,4 ¹東京大学医学部附属病院小児科 ²順天堂大学医学部脳疾患連携分野研究講座 ³大阪市立大学医学部脳神経外科 ⁴大阪市立総合医療センター小児脳神経外科 ¹Department of Pediatrics, the University of Tokyo Hospital ²Department of Brain Disease Translational Research, Faculty of Medicine, Juntendo University ³Department of Neurosurgery, Osaka City University ⁴Department of Pediatric Neurosurgery, Osaka City General Hospital キーワード：小児hemispheric glioma , 遺伝子変異 , 分子標的治療 , pediatric hemispheric glioma , genetic alternation , molecular-targeted therapy Keyword: 小児hemispheric glioma , 遺伝子変異 , 分子標的治療 , pediatric hemispheric glioma , genetic alternation , molecular-targeted therapy pp.122-131

発行日 2022年1月10日 Published Date 2022/1/10

DOI https://doi.org/10.11477/mf.1436204537

PDF(1422KB)

有料閲覧

Abstract 文献概要
1ページ目 Look Inside
参考文献 Reference

Point

・小児hemispheric gliomaにおいては，診断や治療標的として意義のある遺伝子異常が複数存在する．

・特に，BRAF，H3F3A，FGFR1，MYB，MYBL1の異常やNTRK，ALK，ROS1融合遺伝子が重要である．

・分子遺伝学的知見を小児脳腫瘍の予後改善につなげるためには，検査体制や分子標的薬への到達性の向上が求められる．

　About one-third of pediatric low-grade glioma and a half of pediatric high-grade glioma occur in the cerebrum. Pediatric hemispheric glioma may harbor diagnostic and therapeutically targetable genetic abnormalities, including BRAF V600E, H3.3 G34R/V, FGFR1 alternation, MYB or MYBL1 alternation, and NTRK/ALK/ROS1/MET fusion. In addition, the efficacy of molecular-targeted agents, such as BRAF inhibitors, MEK inhibitors, and NTRK inhibitors, against pediatric glioma with the relevant mutations has been demonstrated in several clinical trials. Furthermore, checkpoint inhibitors are considered a choice of treatment for hypermutated glioma, which is typically observed in patients with constitutional mismatch repair deficiency syndrome. Cancer gene panel testing, approved for insurance coverage in Japan in 2019, has been beneficial to pediatric cancer patients. However, to promote the clinical application of the recent molecular understanding of pediatric neuro-oncology, some issues have to be addressed. Herein, we review the genetic profiles of pediatric hemispheric glioma and introduce the current medical situation of precision medicine for pediatric patients with glioma in Japan.