Myxoid glioneuronal tumor of the septum pellucidum with concurrent dual PDGFRA and FGFR3 gene mutations: a case report and literature review

Le résumé fourni par la source

Myxoid glioneuronal tumor (MGNT), a rare neuroepithelial neoplasm newly recognized in the 2021 World Health Organization (WHO) Classification of Tumors of the Central Nervous System (5th edition), is associated with platelet‐derived growth factor receptor α ( PDGFRA) gene alterations. While MGNT typically exhibits indolent histopathological features and a favorable clinical course, rare cases of intraventricular dissemination and leptomeningeal metastasis have been documented. We report a case of a 10-year-old female who presented with headache and was found to have an MGNT in the septum pellucidum. Gross total resection was achieved, and histopathological examination confirmed the diagnosis. Targeted next-generation sequencing (NGS) revealed concurrent pathogenic variants in PDGFRA and fibroblast growth factor receptor 3 ( FGFR3). To contextualize this finding, we performed a systematic review of published MGNT literature to synthesize its clinicopathological, immunohistochemical, and molecular features. Our analysis indicates that integrating immunohistochemistry with molecular profiling—especially NGS—is essential for precise diagnosis and risk stratification. This case broadens the known molecular spectrum of MGNT and implies FGFR3 as a potential therapeutic target, warranting further investigation of FGFR-directed inhibitors in selected patients.

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