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Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions.

作者信息

Wu Zhichao, Rajan Sharika, Chung Hye-Jung, Raffeld Mark, Panneer Selvam Pavalan, Schweizer Leonille, Perry Arie, Samuel David, Giannini Caterina, Ragunathan Aditya, Frosch Matthew P, Marshall Michael S, Boué Daniel R, Donev Kliment, Neill Stewart G, Fernandes Igor, Resnick Adam, Rood Brian, Cummings Thomas J, Buckley Anne F, Szymanski Linda, Neto Osorio Lopes Abath, Zach Leor, Colman Howard, Cheshier Samuel, Ziskin Jennifer, Tyagi Manoj, Capper David, Abdullaev Zied, Cimino Patrick J, Quezado Martha, Pratt Drew, Aldape Kenneth

机构信息

Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Department of Neuropathology, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charité-Universitätsmedizin Berlin, Berlin, Germany.

出版信息

Acta Neuropathol. 2022 Dec;144(6):1175-1178. doi: 10.1007/s00401-022-02508-2. Epub 2022 Oct 6.

DOI:10.1007/s00401-022-02508-2
PMID:36201019
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10673683/
Abstract
摘要

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Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions.具有EP300::BCOR融合的胶质瘤的分子和临床病理特征
Acta Neuropathol. 2022 Dec;144(6):1175-1178. doi: 10.1007/s00401-022-02508-2. Epub 2022 Oct 6.
2
Recurrent EP300-BCOR Fusions in Pediatric Gliomas With Distinct Clinicopathologic Features.具有独特临床病理特征的小儿脑肿瘤中 EP300-BCOR 融合的反复出现。
J Neuropathol Exp Neurol. 2019 Apr 1;78(4):305-314. doi: 10.1093/jnen/nlz011.
3
Pediatric diffuse glioma with EP300::BCOR fusion manifesting as low-grade epilepsy-associated neuroepithelial tumor: a case presentation.表现为低级别癫痫相关性神经上皮肿瘤的伴有EP300::BCOR融合的小儿弥漫性胶质瘤:病例报告
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High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis.伴有 BCOR 外显子 15 内串联重复的高级别神经上皮肿瘤:全面的临床、影像学、病理学和基因组分析。
Brain Pathol. 2020 Jan;30(1):46-62. doi: 10.1111/bpa.12747. Epub 2019 Jun 10.
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High-grade neuroepithelial tumor with EP300::BCOR fusion and negative BCOR immunohistochemical expression: a case report.高级别神经上皮肿瘤伴 EP300::BCOR 融合和 BCOR 免疫组化阴性:病例报告。
Brain Tumor Pathol. 2023 Apr;40(2):133-141. doi: 10.1007/s10014-023-00451-y. Epub 2023 Feb 22.
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CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population.中枢神经系统肿瘤伴 EP300::BCOR 融合:探讨其在成年人群中的流行情况。
Acta Neuropathol Commun. 2023 Feb 13;11(1):26. doi: 10.1186/s40478-023-01523-y.
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The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of "CNS tumors with BCOR internal tandem duplication".EP300:BCOR融合扩展了基因改变谱,从而定义了“伴有BCOR内部串联重复的中枢神经系统肿瘤”这一新的肿瘤实体。
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Fusions involving BCOR and CREBBP are rare events in infiltrating glioma.BCOR 和 CREBBP 融合在浸润性神经胶质瘤中是罕见事件。
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Acta Neuropathol Commun. 2024 Apr 18;12(1):60. doi: 10.1186/s40478-024-01780-5.

引用本文的文献

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CNS Tumor with BCOR/BCORL1 Fusion: A Rare Tumor Entity.伴有BCOR/BCORL1融合的中枢神经系统肿瘤:一种罕见的肿瘤实体。
Int J Mol Sci. 2025 Jul 14;26(14):6729. doi: 10.3390/ijms26146729.
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A novel KDM2A::YAP1 fusion in a pediatric supratentorial CNS neoplasm resembling a tumor with BCOR internal tandem duplication.一种在小儿幕上中枢神经系统肿瘤中发现的新型KDM2A::YAP1融合基因,该肿瘤类似于具有BCOR内部串联重复的肿瘤。
Free Neuropathol. 2025 Feb 18;6:5. doi: 10.17879/freeneuropathology-2025-6152. eCollection 2025 Jan.
3
cIMPACT-NOW update 9: Recommendations on utilization of genome-wide DNA methylation profiling for central nervous system tumor diagnostics.cIMPACT-NOW更新9:关于全基因组DNA甲基化谱在中枢神经系统肿瘤诊断中的应用建议。
Neurooncol Adv. 2025 Jan 3;7(1):vdae228. doi: 10.1093/noajnl/vdae228. eCollection 2025 Jan-Dec.
4
BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion.BCOR::CREBBP 融合型中枢神经系统恶性神经上皮肿瘤扩大了具有 BCOR/BCOR(L1)-融合的甲基化类中枢神经系统肿瘤谱。
Acta Neuropathol Commun. 2024 Apr 18;12(1):60. doi: 10.1186/s40478-024-01780-5.
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CNS tumor with CREBBP::BCORL1 Fusion and pathogenic mutations in BCOR and CREBBP: expanding the spectrum of BCOR-altered tumors.具有 CREBBP::BCORL1 融合和 BCOR 和 CREBBP 致病性突变的中枢神经系统肿瘤:扩大 BCOR 改变的肿瘤谱。
Acta Neuropathol Commun. 2024 Jan 12;12(1):8. doi: 10.1186/s40478-024-01726-x.
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Pediatric diffuse glioma with EP300::BCOR fusion manifesting as low-grade epilepsy-associated neuroepithelial tumor: a case presentation.表现为低级别癫痫相关性神经上皮肿瘤的伴有EP300::BCOR融合的小儿弥漫性胶质瘤:病例报告
Brain Tumor Pathol. 2024 Jan;41(1):35-39. doi: 10.1007/s10014-023-00475-4. Epub 2023 Dec 22.
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Report two adult cases of high-grade neuroepithelial neoplasm harbouring EP300::BCOR fusions with comprehensive molecular detection.报告两例通过全面分子检测发现携带EP300::BCOR融合的高级别神经上皮肿瘤成人病例。
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High-grade neuroepithelial tumor with EP300::BCOR fusion and negative BCOR immunohistochemical expression: a case report.高级别神经上皮肿瘤伴 EP300::BCOR 融合和 BCOR 免疫组化阴性:病例报告。
Brain Tumor Pathol. 2023 Apr;40(2):133-141. doi: 10.1007/s10014-023-00451-y. Epub 2023 Feb 22.
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CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population.中枢神经系统肿瘤伴 EP300::BCOR 融合:探讨其在成年人群中的流行情况。
Acta Neuropathol Commun. 2023 Feb 13;11(1):26. doi: 10.1186/s40478-023-01523-y.

本文引用的文献

1
Diffusely infiltrating glioma with CREBBP-BCORL1 fusion showing overexpression of not only BCORL1 but BCOR: A case report.弥漫性浸润性神经胶质瘤伴 CREBBP-BCORL1 融合,不仅过表达 BCORL1,还过表达 BCOR:一例报告。
Brain Tumor Pathol. 2022 Jul;39(3):171-178. doi: 10.1007/s10014-022-00435-4. Epub 2022 May 21.
2
The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of "CNS tumors with BCOR internal tandem duplication".EP300:BCOR融合扩展了基因改变谱,从而定义了“伴有BCOR内部串联重复的中枢神经系统肿瘤”这一新的肿瘤实体。
Acta Neuropathol Commun. 2020 Nov 2;8(1):178. doi: 10.1186/s40478-020-01064-8.
3
Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)-case-based reviews.伴有BCOR改变的中枢神经系统高级别神经上皮肿瘤(CNS HGNET-BCOR)——基于病例的综述
Childs Nerv Syst. 2020 Aug;36(8):1589-1599. doi: 10.1007/s00381-020-04692-6. Epub 2020 Jun 15.
4
Fusions involving BCOR and CREBBP are rare events in infiltrating glioma.BCOR 和 CREBBP 融合在浸润性神经胶质瘤中是罕见事件。
Acta Neuropathol Commun. 2020 Jun 3;8(1):80. doi: 10.1186/s40478-020-00951-4.
5
BCOR involvement in cancer.BCOR 与癌症的关联。
Epigenomics. 2019 May;11(7):835-855. doi: 10.2217/epi-2018-0195. Epub 2019 May 31.
6
Recurrent EP300-BCOR Fusions in Pediatric Gliomas With Distinct Clinicopathologic Features.具有独特临床病理特征的小儿脑肿瘤中 EP300-BCOR 融合的反复出现。
J Neuropathol Exp Neurol. 2019 Apr 1;78(4):305-314. doi: 10.1093/jnen/nlz011.
7
New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs.新的脑肿瘤实体源于中枢神经系统原始神经外胚层肿瘤的分子分类。
Cell. 2016 Feb 25;164(5):1060-1072. doi: 10.1016/j.cell.2016.01.015.
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Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.骨化性纤维黏液样肿瘤中新型 ZC3H7B-BCOR、MEAF6-PHF1 和 EPC1-PHF1 融合——分子特征显示与子宫内膜间质肉瘤存在遗传重叠。
Genes Chromosomes Cancer. 2014 Feb;53(2):183-93. doi: 10.1002/gcc.22132. Epub 2013 Nov 28.
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GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers.GISTIC2.0 能够灵敏而有把握地定位人类癌症中局灶性体细胞拷贝数改变的靶基因。
Genome Biol. 2011;12(4):R41. doi: 10.1186/gb-2011-12-4-r41. Epub 2011 Apr 28.