We report here about two novel tumours classified as extraventricular neurocytomas (EVN) using DNA-methylation profiling, associated with NTRK2 fusions instead of the usual FGFR1 alterations so far attributed to this tumoural entity. We present the second detailed case of an intraventricular presentation in the MC EVN. Our findings broaden the spectrum of MC EVN and have implications in terms of diagnosis, therapy and terminology.

中文翻译：

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脑室外神经细胞瘤甲基化类中两种具有 NTRK2 融合的新肿瘤，其中一种是脑室内神经细胞瘤

我们在此报告了两种新的肿瘤，使用 DNA 甲基化分析将其分类为室外神经细胞瘤 (EVN)，与 NTRK2 融合相关，而不是迄今为止归因于该肿瘤实体的常见 FGFR1 改变。我们介绍了 MC EVN 脑室内表现的第二个详细病例。我们的研究结果拓宽了 MC EVN 的范围，并对诊断、治疗和术语产生了影响。