Rare-13. diffuse leptomeningeal glioneuronal tumor of ganglioglioma type with v600e mutation in the braf gene

A 2-year-old patient with hydrocephalus, VP shunt and a history of diffuse brain and spinal cord leptomeningeal lesions without definitive diagnosis after biopsy was referred to our institution. Contrast enhanced magnetic resonance imaging (MRI) of the brain and spinal cord was acquired. Brain MRI showed multiple enhancing supra and infratentorial leptomeningeal nodules with involvement of cranial nerves and basal cisterns. Spinal cord MRI showed pseudonodular meningeal thickening that enhanced after contrast administration and generated mass effect with compression of the spinal cord. The results of the cultures and immunological studies were negative. Paravermian excision of a nodular lesion was performed. Histological section stained with hematoxilin and eosin showed proliferation of neoplastic cells with vesicular nuclei and ganglionic cytoplasm, intermixed with cells with elongated nuclei and cytoplasm processes Immunostaining were positive for synaptofisin, neurofilament and GFAP. Histopathologic diagnosis of a diffuse leptomeningeal glioneuronal tumor of ganglioglioma type was established, with V600E mutation in the BRAF gene Chemotherapy was indicated with weekly vinblastine. Two months later, the patient had progressive disease with left facial nerve and right abducens nerve paralysis. It was decided to change treatment to Vemurafenib with initially good clinical response.
Source: Neuro-Oncology - Category: Cancer & Oncology Authors: Tags: RARE TUMORS Source Type: research