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A polyphenotypic malignant paediatric brain tumour presenting a MN1-PATZ1 fusion, no epigenetic similarities with CNS High-Grade Neuroepithelial Tumour with MN1 Alteration (CNS HGNET-MN1) and related to PATZ1-fused sarcomas.

作者信息

Burel-Vandenbos F, Pierron G, Thomas C, Reynaud S, Gregoire V, Duhil de Benaze G, Croze S, Chivoret N, Honavar M, Figarella-Branger D, Maurage C-A, Pedeutour F, Hasselblatt M, Godfraind C

机构信息

RENOCLIP-LOC PACA-CLARA, Central Laboratory of Pathology, University Hospital and Institute of Biology Valrose, Inserm U1091 - CNRS UMR7277, University Côte d'Azur, Nice, France.

Department of Genetics, Institut Curie, Paris, France.

出版信息

Neuropathol Appl Neurobiol. 2020 Aug;46(5):506-509. doi: 10.1111/nan.12626. Epub 2020 Jun 3.

DOI:10.1111/nan.12626
PMID:32397004
Abstract
摘要

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1
A polyphenotypic malignant paediatric brain tumour presenting a MN1-PATZ1 fusion, no epigenetic similarities with CNS High-Grade Neuroepithelial Tumour with MN1 Alteration (CNS HGNET-MN1) and related to PATZ1-fused sarcomas.一种呈现MN1-PATZ1融合的多表型恶性小儿脑肿瘤，与伴有MN1改变的中枢神经系统高级别神经上皮肿瘤（CNS HGNET-MN1）无表观遗传学相似性，且与PATZ1融合肉瘤相关。
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A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management.一例罕见的伴有MN1-GTSE1和EWSR1-PATZ1基因融合改变治疗方案的儿童成星形细胞瘤。
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引用本文的文献

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Neuroepithelial tumors of the central nervous system with fusion: a case report and literature review.伴有融合的中枢神经系统神经上皮肿瘤：一例报告及文献复习
Front Oncol. 2025 Jun 12;15:1604479. doi: 10.3389/fonc.2025.1604479. eCollection 2025.
2
Glioneuronal tumors PATZ1-fused: clinico-molecular and DNA methylation signatures for a variety of morphological and radiological profiles.伴有PATZ1融合的神经胶质神经元肿瘤：多种形态学和放射学特征的临床分子及DNA甲基化特征
Acta Neuropathol Commun. 2025 May 24;13(1):114. doi: 10.1186/s40478-025-02037-5.
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OpenPBTA: The Open Pediatric Brain Tumor Atlas.
开放型小儿脑肿瘤图谱：开放型儿科脑肿瘤图谱
Cell Genom. 2023 May 31;3(7):100340. doi: 10.1016/j.xgen.2023.100340. eCollection 2023 Jul 12.
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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.
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MN1 altered astroblastoma with APC and LRP1B gene mutations: a unique variant in the cervical spine of a pediatric patient.MN1 改变性星形细胞瘤伴 APC 和 LRP1B 基因突变：儿科患者颈椎的一种独特变异型。
Childs Nerv Syst. 2023 May;39(5):1309-1315. doi: 10.1007/s00381-022-05795-y. Epub 2023 Jan 17.
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Front Oncol. 2022 Sep 23;12:960509. doi: 10.3389/fonc.2022.960509. eCollection 2022.
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