儿童型弥漫性低级别胶质瘤伴变异：2 例报告。
Pediatric-type diffuse low-grade glioma with alteration: report of 2 cases.
机构信息
2358University of Virginia, Charlottesville, VA, USA.
出版信息
Neuroradiol J. 2023 Apr;36(2):232-235. doi: 10.1177/19714009221126015. Epub 2022 Sep 8.
Abstract
2016 World Health Organization (WHO) Classification of Tumors of the Central Nervous System (CNS) has shown how molecular features can impact the classification of brain tumors. The continued combination of molecular features with histopathology has led to distinguish tumors with similar histopathologic features but distinct clinical prognosis. The 2021 revised 5. edition of the WHO classification further includes molecular features for CNS tumor categorization including altered diffuse astrocytoma which is a newly recognized type of low-grade pediatric-type brain tumor. We discuss imaging features of two pediatric-type low-grade gliomas with -mutation that encountered at our institution.
摘要
2016 年世界卫生组织（WHO）中枢神经系统（CNS）肿瘤分类显示了分子特征如何影响脑肿瘤的分类。分子特征与组织病理学的持续结合导致了具有相似组织病理学特征但不同临床预后的肿瘤的区分。2021 年 WHO 分类的第五版修订版进一步包括了 CNS 肿瘤分类的分子特征，包括改变的弥漫性星形细胞瘤，这是一种新认定的低级儿科脑肿瘤类型。我们讨论了在我们机构中遇到的两种具有 -突变的儿科型低级神经胶质瘤的影像学特征。
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本文引用的文献
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The 2021 WHO Classification of Tumors of the Central Nervous System: a summary.2021 年世卫组织中枢神经系统肿瘤分类：概述。
Neuro Oncol. 2021 Aug 2;23(8):1231-1251. doi: 10.1093/neuonc/noab106.
2
A single-center study of the clinicopathologic correlates of gliomas with a MYB or MYBL1 alteration.一项关于伴有MYB或MYBL1改变的胶质瘤临床病理相关性的单中心研究。
Acta Neuropathol. 2019 Dec;138(6):1091-1092. doi: 10.1007/s00401-019-02081-1. Epub 2019 Oct 8.
3
Clinical Pearls and Advances in Molecular Researches of Epilepsy-Associated Tumors.癫痫相关肿瘤的临床要点与分子研究进展
J Korean Neurosurg Soc. 2019 May;62(3):313-320. doi: 10.3340/jkns.2019.0033. Epub 2019 May 1.
4
cIMPACT-NOW update 4: diffuse gliomas characterized by MYB, MYBL1, or FGFR1 alterations or BRAF mutation.cIMPACT-NOW更新4：以MYB、MYBL1或FGFR1改变或BRAF突变为特征的弥漫性胶质瘤
Acta Neuropathol. 2019 Apr;137(4):683-687. doi: 10.1007/s00401-019-01987-0. Epub 2019 Mar 8.
5
There is an exception to every rule-T2-FLAIR mismatch sign in gliomas.每个规则都有例外——胶质瘤中的T2-FLAIR不匹配征象。
Neuroradiology. 2019 Feb;61(2):225-227. doi: 10.1007/s00234-018-2148-4. Epub 2018 Dec 18.
6
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.
7
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.
8
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Clin Cancer Res. 2017 Oct 15;23(20):6078-6085. doi: 10.1158/1078-0432.CCR-17-0560. Epub 2017 Jul 27.
9
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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