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 Ⅰ WHO脳腫瘍分類第5版の概要

小児脳腫瘍の分類・診断

著者： 金村米博¹²

所属機関： ¹国立病院機構大阪医療センター臨床研究センター ²国立病院機構大阪医療センター脳神経外科

ページ範囲：P.778 - P.788

Point
・小児脳腫瘍の分子遺伝学的特徴が明らかになり，WHO脳腫瘍分類第5版では小児脳腫瘍の分類に多数の分子遺伝学的知見が組み込まれた．
・Diffuse gliomasに関して，adult-typeとpaediatric-typeに区別した分類が策定された．
・遺伝子変異，コピー数変異に加え，DNAメチル化プロファイルに基づく分類法が随所に採用され，分子診断の重要性が今後さらに増すと考えられる．

参考文献

1）WHO Classification of Tumours Editorial Board：Central Nervous System Tumours：WHO Classification of Tumours. 5th ed, Vol. 6. IARC, Lyon, 2021

2）Ryall S, et al：Pediatric low-grade glioma in the era of molecular diagnostics. Acta Neuropathol Commun 8：30, 2020　doi:10.1186/s40478-020-00902-z

3）Ryall S, et al：Integrated molecular and clinical analysis of 1,000 pediatric low-grade gliomas. Cancer Cell 37：569-583.e5, 2020　doi:10.1016/j.ccell.2020.03.011

mutation. Acta Neuropathol 137：683-687, 2019

and a benign disease course. Acta Neuropathol 139：193-209, 2020

6）Sievers P, et al：A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR. Neuro Oncol 23：34-43, 2021

7）Jain SU, et al：PFA ependymoma-associated protein EZHIP inhibits PRC2 activity through a H3 K27M-like mechanism. Nat Commun 10：2146, 2019　doi:10.1038/s41467-019-09981-6

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

9）Korshunov A, et al：Histologically distinct neuroepithelial tumors with histone 3 G34 mutation are molecularly similar and comprise a single nosologic entity. Acta Neuropathol 131：137-146, 2016

10）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

11）Guerreiro Stucklin AS, et al：Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas. Nat Commun 10：4343, 2019　doi:10.1038/s41467-019-12187-5

12）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

13）Zheng T, et al：Cross-species genomics reveals oncogenic dependencies in ZFTA/C11orf95 fusion-positive supratentorial ependymomas. Cancer Discov 11：2230-2247, 2021

amplification drives an aggressive form of spinal ependymoma. Acta Neuropathol 138：1075-1089, 2019

15）Northcott PA, et al：The whole-genome landscape of medulloblastoma subtypes. Nature 547：311-317, 2017

16）Korshunov A, et al：DNA methylation profiling is a method of choice for molecular verification of pediatric WNT-activated medulloblastomas. Neuro Oncol 21：214-221, 2019

17）Kool M, et al；ICGC PedBrain Tumor Project：Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell 25：393-405, 2014

mutation in medulloblastoma. J Clin Oncol 31：2927-2935, 2013

19）Sharma T, et al：Second-generation molecular subgrouping of medulloblastoma：an international meta-analysis of group 3 and group 4 subtypes. Acta Neuropathol 138：309-326, 2019