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

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.