Strong OLIG2 expression in supratentorial ependymoma, ZFTA fusion-positive: A potential diagnostic pitfall.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2024-04-01 Epub Date: 2023-10-19 DOI:10.1111/neup.12947
João Victor Alves de Castro, Leslie Domenicki Kulikowski, Beatriz Martins Wolff, Renato Natalino, Dirce Maria Carraro, Giovana Tardin Torrezan, Cristovam Scapulatempo Neto, Camila Trolez Amancio, Felipe Sales Nogueira Amorim Canedo, Olavo Feher, Felipe D'Almeida Costa
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引用次数: 0

Abstract

Ependymomas (EPN) are central nervous system neoplasms that exhibit an ependymal phenotype. In particular, supratentorial EPN (ST-EPN) must be differentiated from more aggressive entities such as glioblastoma, IDH-wildtype. This task is frequently addressed with the use of immunohistochemistry coupled with clinical presentation and morphological features. Here we describe the case of a young adult presenting with migraine-like symptoms and a temporoinsular-based expansile mass that was first diagnosed as a GBM, mostly based on strong and diffuse oligodendrocyte transcription factor 2 (OLIG2) expression. Molecular characterization revealed a ZFTA::RELA fusion, supporting the diagnosis of ST-EPN, ZFTA fusion-positive. OLIG2 expression is rarely reported in tumors other than GBM and oligodendrocyte-lineage committed neoplasms. The patient was treated with radiotherapy and temozolomide after surgery and was alive and well at follow-up. This report illustrates the need to assess immunostains within a broader clinical, morphological and molecular context to avoid premature exclusion of important differential diagnoses.

幕上室管膜瘤中OLIG2强表达,ZFTA融合阳性:一个潜在的诊断缺陷。
室管膜瘤(EPN)是中枢神经系统肿瘤,表现出室管膜表型。特别是,幕上EPN(ST-EPN)必须与更具侵袭性的实体区分开来,如胶质母细胞瘤、IDH野生型。这项任务经常通过使用免疫组织化学结合临床表现和形态学特征来解决。在这里,我们描述了一名年轻人出现偏头痛样症状和颞叶岛基膨胀性肿块的病例,该肿块最初被诊断为GBM,主要是基于强烈和弥漫性少突胶质细胞转录因子2(OLIG2)的表达。分子鉴定显示ZFTA::RELA融合,支持ST-EPN的诊断,ZFTA融合阳性。除GBM和少突胶质细胞谱系相关肿瘤外,很少报道OLIG2在肿瘤中的表达。患者在手术后接受了放射治疗和替莫唑胺治疗,随访时存活良好。本报告说明了在更广泛的临床、形态学和分子背景下评估免疫染色的必要性,以避免过早排除重要的鉴别诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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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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