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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Clinicopathological and genetic characteristics of extraventricular neurocytomas
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Clinicopathological and genetic characteristics of extraventricular neurocytomas

机译：脑室外神经细胞瘤的临床病理和遗传特征

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摘要

Extraventricular neurocytoma (EVN) shares histological features with central neurocytoma, but has a wide morphological spectrum. Little is known regarding its clinicopathologic nature, biological behavior and genetic abnormalities. The aim of this study is to examine the diagnostic criteria, genetic abnormalities and biological behavior of EVN. Clinicopathological and molecular genetic studies were performed in seven EVNs. Among them, three cases showed atypical histology. Immunohistochemically, synaptophysin was robustly positive, but neuronal muclear antigen was positive in only half the cases (4/7cases). Isocitrate dehydrogenase enzyme isoform 1 (IDH1) (H09 immunostaining), α-internexin and p53 were negative in all cases. One case was positive for galectin-3. None of the cases showed IDH1 R132 and IDH2 R172 mutation by direct sequencing. One case showed high polysomy of the epidermal growth factor receptor (EGFR) gene; however, O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation and 1p/19q co-deletion were not detected. Array-based comparative genomic hybridization (CGH) study was performed in two cases, revealing different profiles, with loss and gain of multiple chromosomal loci. Two children (18%) had tumor recurrence after initial surgery, and one of them showed worse histology at recurrence and EGFR high polysomy. One patient died from the disease at 18.5 months after surgery. From our study, we concluded that EVNs were characterized by the absence of p53 overexpression, α-internexin positivity, MGMT promotor methylation and IDH1/IDH2 mutation. Oligodendrocyte transcription factor 2 expression was seen in a scattered positive pattern but quite large numbers of tumor cells were negative. EVN is a WHO grade II tumor but some cases (2/7 cases in our series) can show late recurrence but mortality is low (1/7 cases in our series). CGH study suggested genetic heterogeneity of EVNs and unknown subclassification, which requires verification in more cases.
机译：脑室外神经细胞瘤（EVN）与中枢神经细胞瘤具有组织学特征，但形态学范围广。关于其临床病理性质，生物学行为和遗传异常知之甚少。这项研究的目的是检查EVN的诊断标准，遗传异常和生物学行为。在七个EVN中进行了临床病理和分子遗传学研究。其中3例表现出非典型组织学。在免疫组织化学上，突触素呈强阳性，而神经元核抗原仅在一半的病例中为阳性（4/7例）。在所有情况下，异柠檬酸脱氢酶同工型1（IDH1）（H09免疫染色），α-internexin和p53均为阴性。 1例galectin-3阳性。没有病例通过直接测序显示IDH1 R132和IDH2 R172突变。 1例表现出表皮生长因子受体（EGFR）基因高度多态性。然而，未检测到O6-甲基鸟嘌呤-DNA甲基转移酶（MGMT）启动子甲基化和1p / 19q共缺失。在两个案例中进行了基于阵列的比较基因组杂交（CGH）研究，揭示了不同的特征，带有多个染色体基因座的丢失和获得。两名儿童（占18％）在初次手术后出现肿瘤复发，其中一名在复发时表现出较差的组织学和EGFR高多形性。一名患者在手术后18.5个月死于该病。根据我们的研究，我们得出结论，EVN的特征在于不存在p53过表达，α-internexin阳性，MGMT启动子甲基化和IDH1 / IDH2突变。少突胶质细胞转录因子2表达呈阳性分布，但大量肿瘤细胞呈阴性。 EVN是WHO的II级肿瘤，但有些病例（我们系列中的2/7例）可以显示晚期复发，但死亡率却很低（我们系列中的1/7例）。 CGH研究表明EVN的遗传异质性和未知的亚分类，这需要在更多情况下进行验证。

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