Ganglioglioma of the brainstem

Lagares, Alfonso; Gómez, Pedro A.; Lobato, R.D.; Ricoy, José Ramón; Ramos, Ana; Lama, A. de la

doi:10.1016/s0090-3019(01)00618-8

Cited by 74 publications

(22 citation statements)

References 14 publications

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“…Other supratentorial regions are far less often affected, with involvement of the frontal lobe in only 7% of cases, parietal and occipital lobes in 3% of cases each, multiple lobes in 7%, and ‘other’ sites constituting 1% (2). Brainstem GGs are included in these subset of rare ‘other’ GGs, and thus, relatively few studies have been published on this entity (1, 12, 14, 15, 17). …”

Section: Discussionmentioning

confidence: 99%

Pediatric Brainstem Gangliogliomas Show BRAF^V600E Mutation in a High Percentage of Cases

Donson

Kleinschmidt‐DeMasters

Aisner

et al. 2013

Brain Pathology

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Brainstem gangliogliomas (GGs) often cannot be resected, have a much poorer prognosis than those located in more common supratentorial sites, and may benefit from novel therapeutic approaches. Therapeutically-targetable BRAF c.1799T>A (p.V600E) (BRAFV600E) mutations are harbored in roughly 50% of collective GGs taken from all anatomical sites. Large numbers of pediatric brainstem GGs, however, have not been specifically assessed and anatomic- and age-restricted assessment of genetic and biological factors are becoming increasingly important. Pediatric brainstem GGs (n=13), non-brainstem GGs (n=11), and brainstem pilocytic astrocytomas (PAs) (n=8) were screened by standard Sanger DNA sequencing of BRAF exon 15. Five of 13 (38%) pediatric GG harbored a definitive BRAFV600E mutation, with 2 others exhibiting an equivocal result by this method. BRAFV600E was also seen in 5/11 (45%) non-brainstem GGs and 1/8 (13%) brainstem PAs. VE1 immunostaining for BRAFV600E showed concordance with sequencing in 9/9 brainstem GGs including the two cases equivocal by Sanger. The equivocal brainstem GGs were subsequently shown to harbor BRAFV600E using a novel, more sensitive, RNA-sequencing approach, yielding a final BRAFV600E mutation frequency of 54% (7/13) in brainstem GGs. BRAFV600E-targeted therapeutics should be a consideration for the high percentage of pediatric brainstem GGs refractory to conventional therapies.

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Section: Discussionmentioning

confidence: 99%

Pediatric Brainstem Gangliogliomas Show BRAF^V600E Mutation in a High Percentage of Cases

Donson

Kleinschmidt‐DeMasters

Aisner

et al. 2013

Brain Pathology

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“…Although gangliogliomas are most commonly seen in the temporal lobe, they are also seen in the frontal, parietal, and occipital lobes, along with the brain stem, spinal cord, optic chiasm, and pineal region [22, 23]. Intraventricular gangliogliomas are rare, with 26 intraventricular ganglioglioma cases, including ours, described in the literature (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Ganglioglioma Arising from the Septum Pellucidum: Case Report and Review of the Literature

et al. 2019

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Background: Gangliogliomas are low-grade neoplasms that typically affect patients under the age of 30 and present with epilepsy and symptoms of mass effect. Here, we report a case of an intraventricular ganglioglioma involving the septum pellucidum in a pediatric patient with history of optic glioma. Only one other pediatric intraventricular ganglioglioma arising from the septum pellucidum has been reported previously. Case Report: The patient initially presented at 9 months of age with a pilocytic astrocytoma centered on the optic chiasm, treated with chemotherapy and radiation at 3 years of age. Routine follow-up imaging at 13 years of age revealed the development of a mass in the septum pellucidum, which was subtotally resected endoscopically because of its proximity to the fornices. Pathology confirmed a ganglioglioma positive for the BRAF V600E mutation. The tumor residual progressed and was treated with stereotactic radiosurgery. The patient was asymptomatic at her 6-month follow-up visit and the size of the nodule remained stable. Literature Review: Our review of the 25 previously reported intraventricular gangliogliomas found that their pre-surgical diagnoses were often incorrect, reflecting the difficulty of making the diagnosis with signs, symptoms, and imaging alone. Patients can be reassured that the prognosis is generally favorable following uncomplicated neurosurgical resection.

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“…hearing loss, intractable facial pain and hemifacial seizures), hemiparises, cerebellar signs, gait disturbance and headache have all been described [2,5,12,29,30,31]. Interestingly, epilepsy of cerebellar origin has also been reported in patients with cerebellar gangliogliomas [3,12,18,19,20].…”

Section: Discussionmentioning

confidence: 99%

“…Interestingly, epilepsy of cerebellar origin has also been reported in patients with cerebellar gangliogliomas [3,12,18,19,20]. In general, cerebellar gangliogliomas are rare, with only 30 cases being reported in the literature [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,31,32,33,34], and they usually present with a short history (mean 1.6 years) [35]. To our knowledge, this is the first documented case of a cerebellar ganglioglioma presenting with hemorrhage.…”

Section: Discussionmentioning

confidence: 99%

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Hemorrhagic Ganglioglioma of the Posterior Fossa: Case Report

Jeevan¹,

Neil²,

Mohan³

et al. 2013

Pediatr Neurosurg

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Gangliogliomas are rare tumors of the central nervous system that are usually found in the supratentorial compartment, although cases throughout the nervous system have been described. They are generally low-grade malignancies that are amenable to cure by surgical resection. Most manifest as seizures, though, based on location, they can present with focal neurological deficits. We present here a rare case of an infratentorial ganglioglioma presenting with hemorrhage. To our knowledge this is the only reported case of a hemorrhagic ganglioglioma and, as such, we examine its possible prognosis.

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Ganglioglioma of the brainstem

Cited by 74 publications

References 14 publications

Pediatric Brainstem Gangliogliomas Show BRAF^V600E Mutation in a High Percentage of Cases

Pediatric Brainstem Gangliogliomas Show BRAF^V600E Mutation in a High Percentage of Cases

Ganglioglioma Arising from the Septum Pellucidum: Case Report and Review of the Literature

Hemorrhagic Ganglioglioma of the Posterior Fossa: Case Report

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Ganglioglioma of the brainstem

Cited by 74 publications

References 14 publications

Pediatric Brainstem Gangliogliomas Show BRAFV600E Mutation in a High Percentage of Cases

Pediatric Brainstem Gangliogliomas Show BRAFV600E Mutation in a High Percentage of Cases

Ganglioglioma Arising from the Septum Pellucidum: Case Report and Review of the Literature

Hemorrhagic Ganglioglioma of the Posterior Fossa: Case Report

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Pediatric Brainstem Gangliogliomas Show BRAF^V600E Mutation in a High Percentage of Cases

Pediatric Brainstem Gangliogliomas Show BRAF^V600E Mutation in a High Percentage of Cases