Department of Pathology, Saitama Medical University, Moroyama, Japan.
Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, Hidaka, Japan.
Neuropathology. 2024 Apr;44(2):126-134. doi: 10.1111/neup.12939. Epub 2023 Aug 28.
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.
神经毡样岛(NIs)是具有神经毡样岛的胶质神经元肿瘤(GTNIs)的组织学标志,但 GTNIs 目前不被认为是同质实体。GTNI 的本质可能与其神经胶质成分有关,而 NIs 现在被认为是异常的神经元分化或化生。我们报告的这个病例是一名 41 岁的女性,同时患有两个脑肿瘤:一个是左侧顶叶的异柠檬酸脱氢酶(IDH)野生型胶质母细胞瘤(多形性胶质母细胞瘤,GBM),伴有 NIs,另一个是右侧内侧颞叶的组织学上复合神经节细胞瘤(GC)/间变性神经节胶质瘤(GG),伴有 NIs。虽然两个肿瘤在 IDH、组蛋白 H3 和 v-raf 鼠肉瘤病毒致癌基因同源物 B1(BRAF)方面均为基因野生型,但前者肿瘤而非后者肿瘤存在端粒酶逆转录酶启动子基因(TERT)突变。最近一项使用 DNA 甲基化谱分析和下一代测序的系统研究表明,间变性 GG 可分离为其他 WHO 肿瘤类型,包括 IDH 野生型 GBM。这表明了一种诊断方案,如果间变性 GG 是 BRAF 野生型、IDH 野生型和 TERT 启动子突变肿瘤,则很可能是 IDH 野生型 GBM。在这位患者中,可能的情况是由于新生成的 GBM 细胞在对侧半球中的增殖以及 TERT 启动子突变的叠加,GC/间变性 GG 进展为 GBM。本研究未进行 DNA 甲基化谱分析和下一代测序的系统分析,但两个肿瘤在组织学上均存在 NIs,这可能支持这种情况。虽然充分的分子和遗传检测对于准确理解脑肿瘤是必要的,但组织学观察的重要性不容忽视。