Ependymoma-like tumor with mesenchymal differentiation (ELTMD) with ZFTA:NCOA1 fusion: A diagnostic challenge.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2024-06-01 Epub Date: 2023-11-06 DOI:10.1111/neup.12952
Pranav Dorwal, Christine White, Anna Fn Goh, Amit Kumar, Jane McEniery, Rick Walker, Thomas Robertson
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引用次数: 0

Abstract

Ependymal tumors are classified based on their location, histology, and molecular characteristics. Supratentorial ependymomas (ST-EPNs) are a group of circumscribed supratentorial gliomas, which usually have pathogenic fusions involving either zinc finger translocation associated (ZFTA) (formerly C11orf95) or YAP1. A subtype of ependymoma was recently described and labeled ependymoma-like tumors with mesenchymal differentiation (ELTMDs). We describe a case of a 5-year-old boy who presented with a right frontal tumor. The diagnosis was challenging, and a correct diagnosis could only be reached after reanalysis of methylation data with a more recent version of the classifier and RNA fusion testing, which revealed ZFTA:NCOA1 (nuclear receptor coactivator 1) fusion. There are only a handful of cases of this entity, which is being reported for its rarity and the diagnostic challenge it poses.

ZFTA:NCOA1融合的间充质分化Ependymoma样肿瘤:诊断挑战。
Ependymal肿瘤根据其位置、组织学和分子特征进行分类。幕上室管膜瘤(ST-EPNs)是一组局限性幕上神经胶质瘤,通常具有致病性融合,涉及锌指易位相关(ZFTA)(以前为C11orf95)或YAP1。室管膜瘤的一种亚型最近被描述并标记为具有间充质分化的室管膜样肿瘤(ELTMDs)。我们描述了一个5岁男孩的病例,他表现为右额肿瘤。诊断具有挑战性,只有在用最新版本的分类器和RNA融合测试重新分析甲基化数据后才能得出正确的诊断,该测试揭示了ZFTA:NCOA1(核受体共激活因子1)融合。这种实体只有少数病例,由于其罕见性及其带来的诊断挑战而被报道。
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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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