Case ReportGenetic Characterization of a Multifocal Ganglioglioma Originating Within the Spinal Cord
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.
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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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2020, World NeurosurgeryCitation Excerpt :Recent genomic sequencing has shown that nearly 60% of gangliogliomas harbor BRAF V600E mutations; however, the role of BRAF mutations in these tumors has not been fully elucidated.11,12 There have been very few reports of multifocal gangliogliomas, with only 6 documented cases, 1 of which was in the spine.11,13-17 Furthermore, all of the reported cases have been in either children or young adults.
Natural history and neuro-oncological approach in spinal gangliogliomas: a systematic review
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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.