Elsevier

World Neurosurgery

Volume 96, December 2016, Pages 608.e1-608.e4
World Neurosurgery

Case Report
Genetic Characterization of a Multifocal Ganglioglioma Originating Within the Spinal Cord

https://doi.org/10.1016/j.wneu.2016.09.063Get rights and content

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.

Case Description

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.

Introduction

Gangliogliomas are rare tumors composed of both neuronal and glial components. They are predominantly low-grade tumors (World Health Organization [WHO] grade I and II), though there are anaplastic variants (WHO grade III) that display more aggressive behaviors. The neuronal component is characterized by large, mature neoplastic neurons, and the glial component consists of astrocytic or oligodendroglial cells.1 The majority of cases present as intra-axial lesions, but in rare instances, gangliogliomas may occur as a primary mass in the spinal cord.

Given their rarity, little is known about the molecular genetics underlying the oncogenesis and progression of gangliogliomas. Recent reports have attempted to clarify the roles of p53 and BRAF mutations in ganglioglioma formation and prognosis, but a paucity of data limits the ability to make definitive conclusions. In this report, we describe the first case of a multifocal ganglioglioma of the spinal cord, affecting both the conus medullaris and filum terminale. We discuss the histologic and genetic characteristics of our patient's tumor, as they relate to the current literature surrounding the roles of p53 and BRAF mutations in ganglioglioma biology and prognosis.

Section snippets

Case Report

A 35-year-old female presented with a 3-year history of lower back pain, hip discomfort, and numbness and tingling in the legs with intermittent falls. Neurologic examination revealed weakness and impaired vibratory sensation in both lower extremities. Patellar reflexes were decreased on both sides, and Achilles reflexes were decreased on the right side. She had no previous history of malignancy, and her family history was noncontributory.

Magnetic resonance imaging (MRI) of the spine with and

Discussion

Gangliogliomas are rare intra-axial tumors composed of both neoplastic neurons and glial cells. Although intracranial gangliogliomas may disseminate into the spine, only a few cases have been reported as primary ganglioglioma affecting the conus medullaris.2 To our knowledge, this is the first report of a primary spinal cord ganglioglioma with multifocal dissemination on initial presentation. In addition to a mass in the conus medullaris, our patient had a separate lesion in the filum

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    Conflict of interest statement: The authors declare that the article content was composed in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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