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EWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma.

作者信息

Lucas Calixto-Hope G, Gupta Rohit, Wu Jasper, Shah Kathan, Ravindranathan Ajay, Barreto Jairo, Gener Melissa, Ginn Kevin F, Prall Owen W J, Xu Huiling, Kee Damien, Ko Hyun S, Yaqoob Nausheen, Zia Nida, Florez Adriana, Cha Soonmee, Perry Arie, Clarke Jennifer L, Chang Susan M, Berger Mitchel S, Solomon David A

机构信息

Department of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.

Department of Pathology, Children's Mercy Hospital, Kansas City, MO, USA.

出版信息

Acta Neuropathol. 2022 Jan;143(1):109-113. doi: 10.1007/s00401-021-02388-y. Epub 2021 Nov 25.

DOI:10.1007/s00401-021-02388-y
PMID:34825267
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8732961/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/806d/8732961/d1bf4efdd2bd/401_2021_2388_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/806d/8732961/d1bf4efdd2bd/401_2021_2388_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/806d/8732961/d1bf4efdd2bd/401_2021_2388_Fig1_HTML.jpg

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EWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma.EWSR1-BEND2融合基因定义了一种表观遗传学上独特的成星形细胞瘤亚型。
Acta Neuropathol. 2022 Jan;143(1):109-113. doi: 10.1007/s00401-021-02388-y. Epub 2021 Nov 25.
2
Spinal cord astroblastoma with an EWSR1-BEND2 fusion classified as a high-grade neuroepithelial tumour with MN1 alteration.伴有EWSR1-BEND2融合的脊髓成纤维细胞瘤被归类为伴有MN1改变的高级别神经上皮肿瘤。
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Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report.经甲基化分类归类为HGNET-MN1的伴有EWSR1-BEND2融合的脊髓成纤维细胞瘤：一例报告
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Concurrent ependymal and ganglionic differentiation in a subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement.伴室管膜和神经节细胞分化的幕上神经上皮肿瘤中存在 EWSR1-PLAGL1 重排。
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本文引用的文献

1
Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man.一名38岁男性脑干成星形细胞瘤伴EWSR1-BEND2融合的分子学阐释
Free Neuropathol. 2021 Jun 21;2:16. doi: 10.17879/freeneuropathology-2021-3334. eCollection 2021 Jan.
2
Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report.经甲基化分类归类为HGNET-MN1的伴有EWSR1-BEND2融合的脊髓成纤维细胞瘤：一例报告
Brain Tumor Pathol. 2021 Oct;38(4):283-289. doi: 10.1007/s10014-021-00412-3. Epub 2021 Jul 27.
3
cIMPACT-NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT-Utrecht meeting on future CNS tumor classification and grading.
Free Neuropathol. 2024 Dec 10;5:34. doi: 10.17879/freeneuropathology-2024-5983. eCollection 2024 Jan.
4
MN1 immunohistochemistry is a sensitive diagnostic biomarker for primitive CNS tumors with MN1 fusion.MN1免疫组化是检测伴有MN1融合的原发性中枢神经系统肿瘤的一种敏感诊断生物标志物。
Acta Neuropathol. 2024 Dec 2;148(1):77. doi: 10.1007/s00401-024-02827-6.
5
Malignant Bone-Forming Neoplasm With NIPBL::BEND2 Fusion.伴 NIPBL::BEND2 融合的恶性成骨新生物。
Genes Chromosomes Cancer. 2024 Nov;63(11):e70015. doi: 10.1002/gcc.70015.
6
A primary intracranial neuroepithelial neoplasm with novel TCF3::BEND2 fusion: a case report.伴 TCF3::BEND2 融合的原发性颅内神经上皮肿瘤：病例报告。
Acta Neuropathol Commun. 2024 Nov 11;12(1):175. doi: 10.1186/s40478-024-01884-y.
7
Malignant Salivary Gland Neoplasm of the Tongue Base with EWSR1::BEND2 Fusion: An Unusual Case with Literature Review.舌根恶性涎腺肿瘤伴 EWSR1::BEND2 融合：一例罕见病例并文献复习。
Head Neck Pathol. 2024 Nov 4;18(1):118. doi: 10.1007/s12105-024-01726-2.
8
Long-Term Follow-Up of a Child with EWSR1-BEND2 Fused Spinal Astroblastoma.一名患有EWSR1-BEND2融合性脊髓成纤维细胞瘤儿童的长期随访
Pediatr Neurosurg. 2024;59(5-6):202-209. doi: 10.1159/000542050. Epub 2024 Oct 18.
9
Astroblastoma with MN1::BEND2 in an elderly patient: A case report and review of the literature.老年患者伴MN1::BEND2的成星形细胞瘤：一例报告并文献复习
Brain Tumor Pathol. 2024 Oct;41(3-4):151-154. doi: 10.1007/s10014-024-00491-y. Epub 2024 Sep 9.
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Glioma.胶质瘤。
Nat Rev Dis Primers. 2024 May 9;10(1):33. doi: 10.1038/s41572-024-00516-y.
cIMPACT-NOW更新6：关于未来中枢神经系统肿瘤分类和分级的cIMPACT-乌得勒支会议的新实体和诊断原则建议。
Brain Pathol. 2020 Jul;30(4):844-856. doi: 10.1111/bpa.12832. Epub 2020 Apr 19.
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Spinal cord astroblastoma with an EWSR1-BEND2 fusion classified as a high-grade neuroepithelial tumour with MN1 alteration.伴有EWSR1-BEND2融合的脊髓成纤维细胞瘤被归类为伴有MN1改变的高级别神经上皮肿瘤。
Neuropathol Appl Neurobiol. 2020 Feb;46(2):190-193. doi: 10.1111/nan.12593. Epub 2020 Jan 8.
5
Molecular Profiling Reclassifies Adult Astroblastoma into Known and Clinically Distinct Tumor Entities with Frequent Mitogen-Activated Protein Kinase Pathway Alterations.分子分析将成人星形母细胞瘤重新分类为已知的和临床上明显不同的肿瘤实体，这些肿瘤实体经常发生丝裂原活化蛋白激酶途径改变。
Oncologist. 2019 Dec;24(12):1584-1592. doi: 10.1634/theoncologist.2019-0223. Epub 2019 Jul 25.
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Genomic analysis demonstrates that histologically-defined astroblastomas are molecularly heterogeneous and that tumors with MN1 rearrangement exhibit the most favorable prognosis.基因组分析表明，组织学定义的星形细胞瘤在分子上是异质的，并且具有 MN1 重排的肿瘤具有最佳的预后。
Acta Neuropathol Commun. 2019 Mar 15;7(1):42. doi: 10.1186/s40478-019-0689-3.
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DNA methylation-based classification of central nervous system tumours.基于 DNA 甲基化的中枢神经系统肿瘤分类。
Nature. 2018 Mar 22;555(7697):469-474. doi: 10.1038/nature26000. Epub 2018 Mar 14.
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Multimodal molecular analysis of astroblastoma enables reclassification of most cases into more specific molecular entities.对神经胶质细胞瘤进行多模态分子分析，使大多数病例能够重新分类为更具特异性的分子实体。
Brain Pathol. 2018 Mar;28(2):192-202. doi: 10.1111/bpa.12561. Epub 2017 Oct 27.
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Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy.对儿科神经肿瘤患者进行靶向二代测序可改善诊断、识别致病性种系突变并指导靶向治疗。
Neuro Oncol. 2017 May 1;19(5):699-709. doi: 10.1093/neuonc/now254.
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Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors.临床靶向外显子组测序与全基因组拷贝数分析相结合：203 例小儿脑肿瘤精准医学分析。
Neuro Oncol. 2017 Jul 1;19(7):986-996. doi: 10.1093/neuonc/now294.