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

上衣腫

著者： 齋藤竜太¹

所属機関： ¹名古屋大学大学院医学系研究科脳神経外科学

ページ範囲：P.867 - P.875

Point
・上衣腫は他の悪性脳腫瘍とは異なり，点変異がほとんど確認されず，遺伝的およびエピジェネティックに特徴的な疾患である．
・最新のWHO脳腫瘍分類第5版では，組織学的，分子遺伝学的情報，腫瘍部位に基づき，上衣腫を予後と生物学的特徴をより反映する10個の分類に細分化した．
・正確な分類にはDNAメチル化プロファイリングなどの高度な遺伝子解析技術が必要になることが課題で，診断にはサロゲートマーカーが必要である．

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）Yamaguchi J, et al：Latest classification of ependymoma in the molecular era and advances in its treatment：a review. Jpn J Clin Oncol 53：653-663, 2023

3）Träger M, et al：Adult intracranial ependymoma-relevance of DNA methylation profiling for diagnosis, prognosis, and treatment. Neuro Oncol 25：1286-1298, 2023

fusions and upregulated NF-KB signalling characterise a subset of aggressive supratentorial ependymomas that express L1CAM and nestin. J Neurooncol 138：29-39, 2018

5）Parker M, et al：C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma. Nature 506：451-455, 2014

6）Chinnam D, et al：Molecular subgrouping of ependymoma across three anatomic sites and their prognostic implications. Brain Tumor Pathol 39：151-161, 2022

7）Pajtler KW, et al：Molecular classification of ependymal tumors across all CNS compartments, histopathological grades, and age groups. Cancer Cell 27：728-743, 2015

fusion-positive ependymoma can occur in the spinal cord：letter to the editor. Brain Pathol 32：e13020, 2022　doi:10.1111/bpa.13020

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

fusion-negative supratentorial ependymomas are a heterogeneous group of tumors. Acta Neuropathol Commun 6：134, 2018　doi:10.1186/s40478-018-0630-1

11）Ritzmann TA, et al：SIOP ependymoma Ⅰ：final results, long-term follow-up, and molecular analysis of the trial cohort-A BIOMECA Consortium Study. Neuro Oncol 24：936-948, 2022

12）Merchant TE, et al：Conformal radiation therapy for pediatric ependymoma, chemotherapy for incompletely resected ependymoma, and observation for completely resected, supratentorial ependymoma. J Clin Oncol 37：974-983, 2019

13）Upadhyaya SA, et al：Molecular grouping and outcomes of young children with newly diagnosed ependymoma treated on the multi-institutional SJYC07 trial. Neuro Oncol 21：1319-1330, 2019

14）Witt H, et al：DNA methylation-based classification of ependymomas in adulthood：implications for diagnosis and treatment. Neuro Oncol 20：1616-1624, 2018

fusion：an entity with characteristic clinical, radiological, cytogenetic and histopathological features. Brain Pathol 29：205-216, 2019

16）Pajtler KW, et al：YAP1 subgroup supratentorial ependymoma requires TEAD and nuclear factor Ⅰ-mediated transcriptional programmes for tumorigenesis. Nat Commun 10：3914, 2019　doi:10.1038/s41467-019-11884-5

-positive ependymoma. Oncotarget 7：61860-61873, 2016

18）Chapman RJ, et al；Biomarkers of Ependymoma in Childhood and Adolescence（BIOMECA）Consortium：Optimising biomarkers for accurate ependymoma diagnosis, prognostication and stratification within international clinical trials：a BIOMECA study. Neuro Oncol, 2023［Online ahead of print］　doi:10.1093/neuonc/noad055

19）Panwalkar P, et al：Immunohistochemical analysis of H3K27me3 demonstrates global reduction in group-A childhood posterior fossa ependymoma and is a powerful predictor of outcome. Acta Neuropathol 134：705-714, 2017

20）Witt H, et al：Delineation of two clinically and molecularly distinct subgroups of posterior fossa ependymoma. Cancer Cell 20：143-157, 2011

alterations in posterior fossa group A（PFA）ependymomas. Acta Neuropathol 136：211-226, 2018

22）Cavalli FMG, et al：Heterogeneity within the PF-EPN-B ependymoma subgroup. Acta Neuropathol 136：227-237, 2018

mutations in posterior fossa ependymoma. Acta Neuropathol 144：373-376, 2022

24）Ostrom QT, et al：CBTRUS statistical report：primary brain and other central nervous system tumors diagnosed in the United States in 2013-2017. Neuro Oncol 22（12 Suppl 2）：iv1-iv96, 2020　doi:10.1093/neuonc/noaa200

25）Plotkin SR, et al：Spinal ependymomas in neurofibromatosis type 2：a retrospective analysis of 55 patients. J Neurosurg Spine 14：543-547, 2011

26）Coy S, et al：An update on the CNS manifestations of neurofibromatosis type 2. Acta Neuropathol 139：643-665, 2020

/Merlin controls spinal cord neural progenitor function in a Rac1/ErbB2-dependent manner. PLoS One 9：e97320, 2014　doi:10.1371/journal.pone.0097320

28）Benesch M, et al：Spinal cord ependymomas in children and adolescents. Childs Nerv Syst 28：2017-2028, 2012

29）Oh MC, et al：Spinal ependymomas：benefits of extent of resection for different histological grades. J Clin Neurosci 20：1390-1397, 2013

30）Scheil S, et al：Low frequency of chromosomal imbalances in anaplastic ependymomas as detected by comparative genomic hybridization. Brain Pathol 11：133-143, 2001

amplification show aggressive clinical behavior. J Neuropathol Exp Neurol 78：791-797, 2019

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

mutations. Nat Genet 46：451-456, 2014

34）Sonneland PR, et al：Myxopapillary ependymoma. A clinicopathologic and immunocytochemical study of 77 cases. Cancer 56：883-893, 1985

35）Warnick RE, et al：Intracranial myxopapillary ependymoma：case report. J Neurooncol 15：251-256, 1993

36）Chakraborti S, et al：Primary myxopapillary ependymoma of the fourth ventricle with cartilaginous metaplasia：a case report and review of the literature. Brain Tumor Pathol 29：25-30, 2012

37）Ralte AM, et al：Myxopapillary ependymoma of the temporal lobe--report of a rare case of temporal lobe epilepsy. Clin Neuropathol 23：53-58, 2004

38）Bates JE, et al：Myxopapillary ependymoma：a SEER analysis of epidemiology and outcomes. J Neurooncol 129：251-258, 2016

39）Nguyen HS, et al：Intracranial subependymoma：a SEER analysis 2004-2013. World Neurosurg 101：599-605, 2017

gene alterations in human subependymoma. J Neurooncol 134：133-138, 2017