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Journal of Neurology and Clinical Neuroscience

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Malignant epithelioid glioneuronal tumor with BRAF V600E mutation

Author(s): Tandon N, Stark J, Bhattacharjee M

Malignant epithelioid glioneuronal tumors are rare, highly malignant tumors with glial and neuronal components. Very few cases of this variant of malignant glioneuronal tumors have been reported and their clinical presentation, imaging and prognosis remain poorly defined. A 19-year-old female presented to us with a new onset of a seizure disorder and was found to have a large right frontal mass with heterogeneous signal on Magnetic Resonance Imaging (MRI), surrounding edema, patchy enhancement and two small satellite lesions adjacent to mass inferiorly. The patient underwent a craniotomy for tumor resection and pathology revealed a very cellular high-grade malignant epithelioid cell tumor. Tumor cells staining strongly and diffusely for vimentin, S-100, Glial Fibrillary Acidic Protein (GFAP) and synaptophysin - leading to the diagnosis of malignant epithelioid glioneuronal tumor. Genotyping revealed a BRAF V600E mutation. Patient had stable disease until recurrence at 10 months post-operatively. Malignant epithelioid glioneuronal tumors are rare and aggressive tumors but BRAF