Genetic Characterization of a Multifocal Ganglioglioma Originating Within the Spinal Cord

Wang, Joshua; Hong, Christopher S.; Otero, José; Puduvalli, Vinay K.; Elder, J. Bradley

doi:10.1016/j.wneu.2016.09.063

Cited by 5 publications

(2 citation statements)

References 22 publications

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“…One study by Gessi et al 22 found that spinal gangliogliomas do not harbor the BRAF V600E mutation in high frequency. Another study by Wang et al 23 acknowledged that very little work has been done in regards to understanding the role of BRAF mutations in spinal cord tumors. Ryall et al 18 reported the presence of both BRAFV660E , FGFR1 single nucleotide variants, as well as KIAA1549–BRAF and FGFR1–TACC1 fusions in spinal cord LGG.…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular characterization of a multi-institutional cohort of pediatric spinal cord low-grade gliomas

Grob

Nobre

Campbell

et al. 2020

Neuro-Oncology Advances

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Background The MAPK/ERK pathway is involved in cell growth and proliferation, and mutations in BRAF have made it an oncogene of interest in pediatric cancer. Previous studies found that BRAF mutations as well as KIAA1549-BRAF fusions are common in intracranial low-grade gliomas (LGGs). Fewer studies have tested for the presence of these genetic changes in spinal LGGs. The aim of this study was to better understand the prevalence of BRAF and other genetic aberrations in spinal LGG. Methods We retrospectively analyzed 46 spinal gliomas from patients age 1-25 years from Children’s Hospital Colorado (CHCO) and The Hospital for Sick Children (Sick Kids). CHCO utilized a 67 gene panel which assessed BRAF and additionally screened for other possible genetic abnormalities of interest. At Sick Kids, BRAFV600E was assessed by ddPCR and IHC. BRAF fusions were detected by FISH, RT-PCR or Nanostring platform. Data was correlated with clinical information. Results Of 31 samples with complete fusion analysis, 13 (42%) harbored KIAA1549-BRAF. All thirteen (100%) patients with confirmed KIAA1549-BRAF survived the entirety of the study period (median [interquartile range, IQR] follow-up time: 47 months [27-85 months]) and fifteen (83.3%) fusion negative patients survived (follow-up time: 37.5 (19.8-69.5 months). Other mutations of interest were also identified in this patient cohort including BRAFV600E, PTPN11, H3F3A, TP53, FGFR1, and CDKN2A deletion. Conclusion KIAA1549-BRAF was seen in higher frequency than BRAFV600E or other genetic aberrations in pediatric spinal LGGs and experienced lower death rates compared to KIAA1549-BRAF negative patients, although this was not statistically significant.

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Section: Discussionmentioning

confidence: 99%

Clinical and molecular characterization of a multi-institutional cohort of pediatric spinal cord low-grade gliomas

Grob

Nobre

Campbell

et al. 2020

Neuro-Oncology Advances

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“…[4,8] However, one case of lowgrade GG has been reported to harbor TP53 mutation. [27] e NF1 mutations found in this tumor were believed to cause premature truncation and loss of function of the NF1 protein based on their location. NF1 loss of function has been observed in many tumor types and results in elevated levels of active GTP-bound RAS and activation of MAP-Kinase and PI3K pathways.…”

Section: Tumor Molecular Profilementioning

confidence: 99%

Primary spinal intramedullary anaplastic ganglioglioma in a pediatric patient

Dang

Khan

Gadgil

et al. 2023

Surgical Neurology International

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Background: Gangliogliomas (GGs) are rare tumors of the central nervous system composed of neoplastic neural and glial cells and are typically low-grade. Intramedullary spinal anaplastic GGs (AGG) are rare, poorly understood, and often aggressive tumors that can result in widespread progression along the craniospinal axis. Due to the rarity of these tumors, data are lacking to guide clinical and pathologic diagnosis and standard of care treatment. Here, we present a case of pediatric spinal AGG to provide information on our institutional approach to work-up and to highlight unique molecular pathology. Case Description: A 13-year-old female presented with signs of spinal cord compression including right sided hyperreflexia, weakness, and enuresis. Magnetic resonance imaging (MRI) revealed a C3-C5 cystic and solid mass which was treated surgically with osteoplastic laminoplasty and tumor resection. Histopathologic diagnosis was consistent with AGG, and molecular testing identified mutations in H3F3A (K27M), TP53, and NF1. She received adjuvant radiation therapy and her neurological symptoms improved. However, at 6-month follow-up, she developed new symptoms. MRI revealed metastatic recurrence of tumor with leptomeningeal and intracranial spread. Conclusion: Primary spinal AGGs are rare tumors, but a growing body of literature shows some trends that may improve diagnosis and management. These tumors generally present in adolescence and early adulthood with motor/sensory impairment and other spinal cord symptoms. They are most commonly treated by surgical resection but frequently recur due to their aggressive nature. Further reports of these primary spinal AGGs along with characterization of their molecular profile will be important in developing more effective treatments.

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