Neuropil-like islands are a possible pathogenetic link between glioblastoma and gangliocytoma/ganglioglioma in a case of synchronous bilateral brain tumors.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Neuropathology Pub Date : 2024-04-01 Epub Date: 2023-08-28 DOI:10.1111/neup.12939
Keisuke Ishizawa, Jun-Ichi Adachi, Jun-Ichi Tamaru, Ryo Nishikawa, Kazuhiko Mishima, Atsushi Sasaki
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Abstract

Neuropil-like islands (NIs) are a histologic hallmark of glioneuronal tumors with neuropil-like islands (GTNIs), but GTNIs are presently not considered a homogeneous entity. The essence of GTNI is likely its glial component, and NIs are now considered aberrant neuronal differentiation or metaplasia. The case we report herein is a 41-year-old woman who was synchronously affected by two brain tumors: one was a glioblastoma (glioblastoma multiforme, GBM), of isocitrate dehydrogenase (IDH)-wild type, with NIs in the left parietal lobe, and the other was histologically a composite gangliocytoma (GC)/anaplastic ganglioglioma (GG) with NIs in the right medial temporal lobe. While both tumors were genetically wild type for IDH, histone H3, and v-raf murine sarcoma viral oncogene homolog B1 (BRAF), the former tumor, but not the latter, was mutated for telomerase reverse transcriptase promoter gene (TERT). A recent systematic study using DNA methylation profiling and next-generation sequencing showed that anaplastic GG separate into other WHO tumor types, including IDH-wild-type GBM. It suggested a diagnostic scheme where an anaplastic GG is likely an IDH-wild-type GBM if it is a BRAF wild type, IDH wild type, and TERT promoter mutant tumor. The likely scenario in this patient is that the GBM results from the progression of GC/anaplastic GG due to the superimposed TERT promoter mutation and the propagation of newly generated GBM cells in the contralateral hemisphere. A systematic analysis using DNA methylation profiling and next-generation sequencing was not available in this study, but the common presence of NIs histologically noted in the two tumors could support this scenario. Although a sufficient volume of molecular and genetic testing is sine qua non for the accurate understanding of brain tumors, the importance of histologic observation cannot be overemphasized.

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在一例同步双侧脑肿瘤病例中,神经绒毛样岛可能是胶质母细胞瘤和神经节细胞瘤/神经节胶质细胞瘤之间的发病联系。
神经绒毛样岛(NIs)是胶质细胞神经元肿瘤(GTNIs)的组织学特征,但目前GTNIs并不被认为是一个同质的实体。GTNI 的本质可能是其神经胶质成分,而 NI 目前被认为是神经元的异常分化或移行。本文报告的病例是一名 41 岁女性,她同时罹患两种脑肿瘤:一种是异柠檬酸脱氢酶(IDH)野生型胶质母细胞瘤(多形性胶质母细胞瘤,GBM),左顶叶有 NIs;另一种是组织学上的复合神经节细胞瘤(GC)/无弹性神经节胶质瘤(GG),右颞叶内侧有 NIs。这两种肿瘤的IDH、组蛋白H3和v-raf小鼠肉瘤病毒癌基因同源物B1(BRAF)基因均为野生型,但前者的端粒酶逆转录酶启动子基因(TERT)发生了突变,而后者则没有。最近一项利用DNA甲基化分析和下一代测序技术进行的系统研究表明,无弹性GG可分离为其他WHO肿瘤类型,包括IDH-Wild型GBM。该研究提出了一种诊断方案,即如果无弹性 GG 是 BRAF 野生型、IDH 野生型和 TERT 启动子突变型肿瘤,则很可能是 IDH 野生型 GBM。该患者可能出现的情况是,由于叠加的 TERT 启动子突变和新生成的 GBM 细胞在对侧半球的传播,GC/无弹性 GG 进展导致 GBM。本研究没有使用DNA甲基化分析和新一代测序技术进行系统分析,但两个肿瘤组织学上共同存在的NIs可能支持这一假设。虽然大量的分子和基因检测是准确了解脑肿瘤的必要条件,但组织学观察的重要性无论如何强调都不为过。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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