Pediatric Central Nervous System Neuroblastoma with Suspected FOXR2 Activation Mimicking a High-Grade Glioma: A Case Report and Review of the Literature

Central nervous system neuroblastoma with FOXR2 activation (CNS NB-FOXR2) is a recently recognized and exceptionally rare embryonal tumor entity predominantly affecting children. Owing to its nonspecific clinical, radiological, and histopathological features, preoperative diagnosis remains particularly challenging. We report the case of a 10-year-old child presenting with progressive left hemiparesis, generalized tonic–clonic seizures, and signs of intracranial hypertension. Brain magnetic resonance imaging revealed a large heterogeneous right frontal supratentorial lesion with solid, cystic, and hemorrhagic components, initially diagnosed as a pediatric high-grade glioma on stereotactic biopsy. Following ventriculoperitoneal shunt placement for hydrocephalus, the patient underwent microsurgical tumor resection. Histopathological analysis was consistent with an embryonal tumor suggestive of FOXR2-activated CNS neuroblastoma, while molecular studies were recommended for definitive characterization. Postoperatively, neurological improvement was observed; however, follow-up imaging demonstrated persistent infiltrative tumor progression without spinal dissemination. This case highlights the diagnostic complexity of CNS NB-FOXR2 tumors and underscores the importance of integrating histopathological and molecular analyses for accurate diagnosis and therapeutic planning in pediatric supratentorial tumors