Two novel tumours with NTRK2 fusion in the methylation class of extraventricular neurocytomas, including one intraventricular

IF 5.8 2区 医学 Q1 CLINICAL NEUROLOGY Brain Pathology Pub Date : 2023-11-23 DOI:10.1111/bpa.13223
Emmanuelle Uro-Coste, Arnault Tauziede-Espariat, Charlotte Dubucs, Dan Christian Chiforeanu, Aurore Siegfried, Yvan Nicaise, Luc Bauchet, Laurent Riffaud, Franck Bielle, Alexandre Vasiljevic, Romain Appay, Solène Evrard, Pascale Varlet, Valérie Rigau, The Biopathology RENOCLIP-LOC network
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Abstract

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.

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两个新的肿瘤与NTRK2融合在甲基化类脑室外神经细胞瘤,包括一个脑室内。
我们在此报告了两种新型肿瘤,使用dna甲基化分析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这种肿瘤实体的通常FGFR1改变。我们提出第二个详细的病例脑室内的表现在MC EVN。我们的发现拓宽了MC EVN的范围,并在诊断、治疗和术语方面具有重要意义。
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来源期刊
Brain Pathology
Brain Pathology 医学-病理学
CiteScore
13.20
自引率
3.10%
发文量
90
审稿时长
6-12 weeks
期刊介绍: Brain Pathology is the journal of choice for biomedical scientists investigating diseases of the nervous system. The official journal of the International Society of Neuropathology, Brain Pathology is a peer-reviewed quarterly publication that includes original research, review articles and symposia focuses on the pathogenesis of neurological disease.
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