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额叶基因型胶质母细胞瘤酷似节细胞胶质瘤:一例报告及文献复习

Genotypical glioblastoma of the frontal lobe mimicking ganglioglioma: A case report and review of the literature.

作者信息

Kraus Theo F J, Pöppe Johannes, Machegger Lukas, Zellinger Barbara, Dovjak Eva, Schlicker Hans U, Schwartz Christoph, Ladisich Barbara, Spendel Mathias, Al-Schameri Abdul R, Winkler Peter A, Sotlar Karl

机构信息

Institute of Pathology University Hospital Salzburg Paracelsus Medical University Salzburg Austria.

Department of Neurosurgery University Hospital Salzburg Paracelsus Medical University Salzburg Austria.

出版信息

Clin Case Rep. 2021 Aug 30;9(9):e04544. doi: 10.1002/ccr3.4544. eCollection 2021 Sep.

DOI:10.1002/ccr3.4544
PMID:34484744
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8405366/
Abstract

This case of severe phenotype-genotype mismatch brain tumor morphologically mimicking benign ganglioglioma emphasizes the urgent need for advanced molecular profiling in brain tumor diagnosis in the era of sophisticated molecular profiling.

摘要

这个严重的表型-基因型不匹配的脑肿瘤病例在形态学上模仿良性节细胞胶质瘤,强调了在复杂分子分析时代,脑肿瘤诊断中对先进分子分析的迫切需求。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0551/8405366/b83ca1fa1cbc/CCR3-9-e04544-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0551/8405366/3ce2b23ad4b2/CCR3-9-e04544-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0551/8405366/f87706c61aea/CCR3-9-e04544-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0551/8405366/b83ca1fa1cbc/CCR3-9-e04544-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0551/8405366/3ce2b23ad4b2/CCR3-9-e04544-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0551/8405366/f87706c61aea/CCR3-9-e04544-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0551/8405366/b83ca1fa1cbc/CCR3-9-e04544-g004.jpg

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本文引用的文献

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Diffuse midline glioma of the cervical spinal cord with H3 K27M genotype phenotypically mimicking anaplastic ganglioglioma: a case report and review of the literature.颈脊髓弥漫性中线胶质瘤伴 H3 K27M 基因型表型模拟间变性 ganglioglioma:病例报告及文献复习。
Brain Tumor Pathol. 2020 Jul;37(3):89-94. doi: 10.1007/s10014-020-00365-z. Epub 2020 May 25.
2
The prognostic significance of CDKN2A homozygous deletion in IDH-mutant lower-grade glioma and glioblastoma: a systematic review of the contemporary literature.IDH 突变型低级别胶质瘤和胶质母细胞瘤中 CDKN2A 纯合缺失的预后意义:当代文献的系统评价。
J Neurooncol. 2020 Jun;148(2):221-229. doi: 10.1007/s11060-020-03528-2. Epub 2020 May 8.
3
Methylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre.
成人脑瘤的甲基化阵列分析:一个大型单一中心的诊断结果。
Acta Neuropathol Commun. 2019 Feb 20;7(1):24. doi: 10.1186/s40478-019-0668-8.
4
Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience.DNA 甲基化和基于拷贝数的中枢神经系统肿瘤诊断的实际应用:海德堡经验。
Acta Neuropathol. 2018 Aug;136(2):181-210. doi: 10.1007/s00401-018-1879-y. Epub 2018 Jul 2.
5
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.
6
The case for DNA methylation based molecular profiling to improve diagnostic accuracy for central nervous system embryonal tumors (not otherwise specified) in adults.基于DNA甲基化的分子谱分析用于提高成人中枢神经系统胚胎性肿瘤(未另行指定)诊断准确性的情况。
J Clin Neurosci. 2018 Jan;47:163-167. doi: 10.1016/j.jocn.2017.09.013. Epub 2017 Oct 6.
7
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The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary.2016 年世界卫生组织中枢神经系统肿瘤分类:概述。
Acta Neuropathol. 2016 Jun;131(6):803-20. doi: 10.1007/s00401-016-1545-1. Epub 2016 May 9.
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Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups.所有中枢神经系统区域、组织病理学分级和年龄组的室管膜瘤分子分类
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