A glioneuronal tumor with neurocytic rosettes harboring FGFR1 internal tandem duplication - A report of a unique case.

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Neuropathology Pub Date : 2024-11-25 DOI:10.1111/neup.13018

Jiri Soukup, Nikola Hajkova, Veronika Hajkova, Marian Svajdler, David Netuka, Martin Majovsky

引用次数: 0

Abstract

Rosette-forming glioneuronal tumors (RGNTs) with FGFR1 tyrosine kinase domain internal tandem duplication (FGFR1 ITD) is exceedingly rare, with only a few cases reported in the literature. Hereby we present a case of a tumor with RGNT morphology occurring in area of septum pellucidum of 43-year-old male. The tumor showed FGFR1 ITD, no PIK3CA, PIK3R1 or NF1 alterations and inconclusive methylation profile with match for class of "low-grade glial/glioneuronal/neuroepithelial tumors". No areas characteristic of dysembryoplastic neuroepithelial tumor were identified. A brief review of literature on discrepancies between morphological diagnosis of RGNT and molecular profile of the entity is provided.

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神经胶质细胞瘤伴有神经胶质细胞瘤的FGFR1内部串联重复--一例独特病例的报告。

带有表皮生长因子1酪氨酸激酶结构域内部串联重复（FGFR1 ITD）的玫瑰花状胶质细胞瘤（RGNTs）极为罕见，文献中仅有几例报道。在此，我们介绍一例发生在 43 岁男性透明隔区域的具有 RGNT 形态的肿瘤。该肿瘤显示 FGFR1 ITD，无 PIK3CA、PIK3R1 或 NF1 改变，甲基化谱不确定，符合 "低级别胶质/神经元/神经上皮肿瘤 "类别。没有发现胚胎发育不良性神经上皮肿瘤的特征区域。本文简要回顾了有关 RGNT 形态学诊断与该实体分子特征之间差异的文献。

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 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.