Genetic Characterization of a Multifocal Ganglioglioma Originating Within the Spinal Cord

详细信息    查看全文

• 作者：Joshua L. Wang¹ ; Christopher S. Hong¹ ; Jose Otero² ; Vinay K. Puduvalli³ ; J. Bradley Elder³ ; ^{brad.elder@osumc.edu}
• 关键词：BRAF ; Ganglioglioma ; Multifocal ganglioglioma ; p53
• 刊名：World Neurosurgery
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：96
• 期：Complete
• 页码：608.e1-608.e4
• 全文大小：1373 K
• 卷排序：96

文摘

Gangliogliomas are rare, low-grade intra-axial tumors that exhibit both neuronal and glial components. Although the vast majority present as an intracranial lesion, a rare subset exist as isolated lesions of the spinal cord. Gangliogliomas have also been shown to harbor mutations in the p53 tumor suppressor gene and BRAF oncogene. Previous studies in ganglioglioma have correlated p53 mutations with histologic transformation and BRAF mutations with worse prognosis.Case DescriptionIn this report, we describe a 35-year-old female who presented with multifocal ganglioglioma, involving both the conus medullaris and filum terminale. The dominant lesion in the filum terminale was resected, which revealed World Health Organization I grade, p53 mutant, and BRAF wildtype status. Our study documents the first report of a multifocal ganglioglioma, originating within the spinal cord.ConclusionsImportantly, this case contradicts previous reports of p53 and BRAF mutations portending worsened tumor behavior and prognosis and demonstrates that further studies are needed to delineate the role of genetic characterization in the biologic understanding and management of gangliogliomas.