Neurological Surgery 脳神経外科51巻5号

2023年09月発行

特集 臨床脳神経外科医にとってのWHO脳腫瘍分類第5版 Ⅳ 小児脳腫瘍

小児型びまん性悪性グリオーマ

著者： 棗田学¹

所属機関： ¹新潟大学脳研究所脳神経外科教室

ページ範囲：P.876 - P.883

Point
・小児型びまん性悪性グリオーマは，WHO脳腫瘍分類第5版で定義された新しい疾患カテゴリーである．
・診断確定には病理学的検索および遺伝子変異解析のみならず，融合遺伝子解析やメチル化解析が必要な場合がある．
・特にdiffuse midline glioma, H3 K27-alteredは予後不良で，新しい治療法の開発が急務である．

参考文献

1）Khuong-Quang DA, et al：K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathol 124：439-447, 2012

2）Wu G, et al：The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma. Nat Genet 46：444-450, 2014

K27M mutations in thalamic gliomas from young adult patients. Neuro Oncol 16：140-146, 2014

mutations in diffuse intrinsic pontine glioma. Nat Genet 46：457-461, 2014

K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes. Acta Neuropathol 130：815-827, 2015

6）Mackay A, et al：Integrated molecular meta-analysis of 1,000 pediatric high-grade and diffuse intrinsic pontine glioma. Cancer Cell 32：520-537, 2017

mutations characterizes pediatric and adult high-grade gliomas of the spinal cord. Acta Neuropathol 130：435-437, 2015

gene K27M mutation segregate spinal cord astrocytoma histology. Acta Neuropathol 131：147-150, 2016

9）Ishi Y, et al：Prognostic role of H3K27M mutation, histone H3K27 methylation status, and EZH2 expression in diffuse spinal cord gliomas. Brain Tumor Pathol 37：81-88, 2020

10）Chai RC, et al：The molecular characteristics of spinal cord gliomas with or without H3 K27M mutation. Acta Neuropathol Commun 8：40, 2020　doi:10.1186/s40478-020-00913-w

11）Bechet D, et al：Specific detection of methionine 27 mutation in histone 3 variants（H3K27M）in fixed tissue from high-grade astrocytomas. Acta Neuropathol 128：733-741, 2014

extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation. Acta Neuropathol 139：1109-1113, 2020

exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition. Acta Neuropathol 139：1071-1088, 2020

14）Picart T, et al：Characteristics of diffuse hemispheric gliomas, H3 G34-mutant in adults. Neurooncol Adv 3：vdab061, 2021　doi:10.1093/noajnl/vdab061

15）Korshunov A, et al：H3-/IDH-wild type pediatric glioblastoma is comprised of molecularly and prognostically distinct subtypes with associated oncogenic drivers. Acta Neuropathol 134：507-516, 2017

16）Whitehouse JP, et al：Defining the molecular features of radiation-induced glioma：a systematic review and meta-analysis. Neurooncol Adv 3：vdab109, 2021　doi:10.1093/noajnl/vdab109

17）Abe H, et al：MGMT expression contributes to temozolomide resistance in H3K27M-mutant diffuse midline gliomas. Front Oncol 9：1568, 2020　doi:10.3389/fonc.2019.01568

18）Korshunov A, et al：Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers. Acta Neuropathol 129：669-678, 2015

19）Banan R, et al：Absence of MGMT promoter methylation in diffuse midline glioma, H3 K27M-mutant. Acta Neuropathol Commun 5：98, 2017　doi:10.1186/s40478-017-0500-2

20）Majzner RG, et al：GD2-CAR T cell therapy for H3K27M-mutated diffuse midline gliomas. Nature 603：934-941, 2022

21）Majzner RG, et al：Major tumor regressions in H3K27M-mutated diffuse midline glioma（DMG）following sequential intravenous（IV）and intracerbroventricular（ICV）delivery of GD2-CAR T cells. Cancer Res 82：CT001, 2022　doi.org/10.1158/1538-7445.AM2022-CT001

22）Saito R, et al：Phase Ⅱ single-arm, multi-center, physician-initiated clinical trial of convection-enhanced delivery of nimustine hydrochloride（ACNU）against diffuse intrinsic pontine gliomas. J Clin Oncol 40（16 suppl）：2071, 2022　doi:10.1200/JCO.2022.40.16_suppl.2071

23）Abuarqoub A, et al：ONC201 targeting in DIPG. Neuro Oncol 23：i24-i25, 2021　doi:10.1093/neuonc/noab090.100

24）Hashizume R, et al：New therapeutic approach for brain tumors：intranasal delivery of telomerase inhibitor GRN163. Neuro Oncol 10：112-120, 2008

25）Drummond DC, et al：Development of a highly active nanoliposomal irinotecan using a novel intraliposomal stabilization strategy. Cancer Res 66：3271-3277, 2006

26）Louis N, et al：New therapeutic approaches for brainstem tumors：a comparison of delivery routes using nanoliposomal irinotecan in an animal model. J Neurooncol 136：475-484, 2018

27）Sasaki T, et al：Intranasal delivery of nanoliposomal SN-38 for treatment of diffuse midline glioma. J Neurosurg 138：1570-1579, 2023（Oneline Publication Date：11 Nov 2022）

28）Leske H, et al：K27/G34 versus K28/G35 in histone H3-mutant gliomas：a note of caution. Acta Neuropathol 136：175-176, 2018

29）棗田　学，他：髄液よりH3K27M変異が検出可能なdiffuse midline gliomaの検討．小児の脳神 47：358-364, 2022

30）On J, et al：Low detection rate of H3K27M mutations in cerebrospinal fluid obtained from lumbar puncture in newly diagnosed diffuse midline gliomas. Diagnostics（Basel）11：681, 2021　doi:10.3390/diagnostics11040681