ArticleSurgical neurology international2025
Pediatric high-grade neuroepithelial BCOR tandem duplicated tumor: An illustrative case.
Article in Surgical neurology international, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Central nervous system (CNS) high-grade neuroepithelial tumors with BCL-6 co-repressor (BCOR) exon 15 internal tandem-duplication (ITD) are rare, aggressive pediatric neoplasms characterized by poor prognosis and unclear treatment protocols. The diagnosis requires molecular confirmation, and early neurosurgical intervention is critical. Case Description: A 2-year-old male presented with progressive fatigue, ataxia, and signs of increased intracranial pressure. Imaging revealed a large left frontal mass with midline shift. Emergent bifrontal craniotomy was performed, achieving gross total resection (GTR) without preoperative MRI due to hemodynamic instability. Subsequent deoxyribonucleic acid methylation profiling confirmed the diagnosis of a CNS BCOR-ITD. The patient was treated with intensive chemotherapy following the ACNS0334 protocol, followed by autologous hematopoietic stem cell transplantation. He remains neurologically intact at the past follow-up 9 months after surgery. Conclusion: This case highlights the diagnostic and therapeutic challenges of pediatric CNS BCOR-ITD, emphasizing the need to attempt early GTR and multimodal chemotherapy in providing a meaningful functional recovery for this patient.
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