Genetic Characterization of a Multifocal Ganglioglioma Originating Within the Spinal Cord.
BACKGROUND
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.


METHODS
In 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.


CONCLUSIONS
Importantly, 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.
College of Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Joshua L
JL
Wang
College of Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Christopher S
CS
Hong
Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Jose
J
Otero
Department of Neurological Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Vinay K
VK
Puduvalli
Department of Neurological Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA. Electronic address: brad.elder@osumc.edu.
J Bradley
JB
Elder
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D018303:Ganglioglioma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D060787:Neoplasm Grading; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D013116:Spinal Cord / Q000473:pathology / Q000601:surgery; D013120:Spinal Cord Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
D016159:Tumor Suppressor Protein p53; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
BRAF; Ganglioglioma; Multifocal ganglioglioma; p53
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