Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (784 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
Rare indolent tumors comprised of neoplastic glial and neuronal cells which occur primarily in children and young adults. Benign lesions tend to be associated with long survival unless the tumor degenerates into a histologically malignant form. They tend to occur in the optic nerve and white matter of the brain and spinal cord.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Gangliogliomas; Ganglioglioma, Benign; Benign Ganglioglioma; Benign Gangliogliomas; Gangliogliomas, Benign; Ganglioglioma, Malignant; Gangliogliomas, Malignant; Malignant Ganglioglioma.
Where it fits in the MeSH classification
- Broader topics
- Glioma
Research landscape
PubMed indexes 1,075 records tagged with the MeSH heading “Ganglioglioma” (counts retrieved 2026-10-29). 146 of them (13.6%) were published from 2020 onward, and the busiest period so far is 2010-2019 with 380 records.
Reviews account for 204 records (19.0%) and meta-analyses for 3. Randomized controlled trials number 1 (0.1%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 170 |
| 2000-2009 | 379 |
| 2010-2019 | 380 |
| 2020 onward | 146 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 204 | 19.0% |
| Meta-analyses | 3 | 0.3% |
| Randomized controlled trials | 1 | 0.1% |
Method: PubMed query "Ganglioglioma"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in cancer and oncology
Cancer research spans very different kinds of evidence. Laboratory studies in cell lines and animal models reveal mechanisms but often do not translate to patients. Early-phase trials mainly test safety and dosing, while phase 3 randomized trials and their meta-analyses are the usual basis for treatment conclusions. Outcomes also differ in meaning: tumour shrinkage, progression-free survival and overall survival are not interchangeable, and screening studies can be distorted by lead-time and overdiagnosis. When reading a result, check the cancer type and stage studied, the comparison treatment, and which outcome was measured.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| The genetic landscape of ganglioglioma | 2018 | Research article Design not recorded in structured metadata | 148 | cc by PMID 29880043 · DOI · PMC5992851 |
| Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent | 2014 | Research article Design not recorded in structured metadata | 71 | cc by PMID 25524464 · DOI · PMC4279809 |
| Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours | 2018 | Research article Design not recorded in structured metadata | 62 | cc by PMID 29058119 · DOI · PMC5756244 |
| Molecular features in gangliogliomas: a systematic review | 2026 | Systematic review Design not recorded in structured metadata | 1 | cc by PMID 41721014 · DOI · PMC12923415 |
The genetic landscape of ganglioglioma [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Ganglioglioma is the most common epilepsy-associated neoplasm that accounts for approximately 2% of all primary brain tumors.
- Closing excerpt
- Together, this study highlights that ganglioglioma is characterized by genetic alterations that activate the MAP kinase pathway, with only a small subset of cases that harbor additional pathogenic alterations such as CDKN2A deletion.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (261 words)
Ganglioglioma is the most common epilepsy-associated neoplasm that accounts for approximately 2% of all primary brain tumors. While a subset of gangliogliomas are known to harbor the activating p.V600E mutation in the BRAF oncogene, the genetic alterations responsible for the remainder are largely unknown, as is the spectrum of any additional cooperating gene mutations or copy number alterations. We performed targeted next-generation sequencing that provides comprehensive assessment of mutations, gene fusions, and copy number alterations on a cohort of 40 gangliogliomas. Thirty-six harbored mutations predicted to activate the MAP kinase signaling pathway, including 18 with BRAF p.V600E mutation, 5 with variant BRAF mutation (including 4 cases with novel in-frame insertions at p.R506 in the β3-αC loop of the kinase domain), 4 with BRAF fusion, 2 with KRAS mutation, 1 with RAF1 fusion, 1 with biallelic NF1 mutation, and 5 with FGFR1/2 alterations. Three gangliogliomas with BRAF p.V600E mutation had concurrent CDKN2A homozygous deletion and one additionally harbored a subclonal mutation in PTEN. Otherwise, no additional pathogenic mutations, fusions, amplifications, or deletions were identified in any of the other tumors. Amongst the 4 gangliogliomas without canonical MAP kinase pathway alterations identified, one epilepsy-associated tumor in the temporal lobe of a young child was found to harbor a novel ABL2-GAB2 gene fusion. The underlying genetic alterations did not show significant association with patient age or disease progression/recurrence in this cohort. Together, this study highlights that ganglioglioma is characterized by genetic alterations that activate the MAP kinase pathway, with only a small subset of cases that harbor additional pathogenic alterations such as CDKN2A deletion.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 29880043 · DOI · PMC5992851
Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent [2]
Abstract reading summary — source excerpts
- Opening excerpt
- BackgroundGanglioglioma (GG) and pilocytic astrocytoma (PA) represent the most frequent low-grade gliomas (LGG) occurring in paediatric age.
- Closing excerpt
- ConclusionOur experience underline the importance of understanding the driver molecular alterations of LGG and suggests a role for Vemurafenib in the treatment of pediatric GG not amenable of complete surgical resection.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (148 words)
BackgroundGanglioglioma (GG) and pilocytic astrocytoma (PA) represent the most frequent low-grade gliomas (LGG) occurring in paediatric age. LGGs not amenable of complete resection (CR) represent a challenging subgroup where traditional treatments often fail. Activation of the MAP Kinase (MAPK) pathway caused by the BRAFV600E mutation or the KIAA1549-BRAF fusion has been reported in pediatric GG and PA, respectively.Case presentationWe report on a case of BRAFV600E mutated cervicomedullary GG treated with standard chemotherapy and surgery. After multiple relapse, BRAF status was analyzed by immunohistochemistry and sequencing showing a BRAFV600E mutation. Treatment with Vemurafenib as single agent was started. For the first time, a radiological and clinical response was obtained after 3 months of treatment and sustained after 6 months.ConclusionOur experience underline the importance of understanding the driver molecular alterations of LGG and suggests a role for Vemurafenib in the treatment of pediatric GG not amenable of complete surgical resection.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 25524464 · DOI · PMC4279809
Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Glioneuronal tumours are an important cause of treatment-resistant epilepsy.
- Closing excerpt
- The first of these displays astrocytic differentiation and is driven by BRAF mutations, while the second displays oligodendroglial differentiation and is driven by FGFR1 mutations.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (232 words)
Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic tools. This is illustrated by marked variability in the reported frequencies across different epilepsy surgical series. To address this, we used DNA methylation arrays and RNA sequencing to assay the methylation and expression profiles within a large cohort of glioneuronal tumours. By adopting a class discovery approach, we were able to identify two distinct groups of glioneuronal tumour, which only partially corresponded to the existing histological classification. Furthermore, by additional molecular analyses, we were able to identify pathogenic mutations in BRAF and FGFR1, specific to each group, in a high proportion of cases. Finally, by interrogating our expression data, we were able to show that each molecular group possessed expression phenotypes suggesting different cellular differentiation: astrocytic in one group and oligodendroglial in the second. Informed by this, we were able to identify CCND1, CSPG4, and PDGFRA as immunohistochemical targets which could distinguish between molecular groups. Our data suggest that the current histological classification of glioneuronal tumours does not adequately represent their underlying biology. Instead, we show that there are two molecular groups within glioneuronal tumours. The first of these displays astrocytic differentiation and is driven by BRAF mutations, while the second displays oligodendroglial differentiation and is driven by FGFR1 mutations.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 29058119 · DOI · PMC5756244
Molecular features in gangliogliomas: a systematic review [4]
Abstract reading summary — source excerpts
- Opening excerpt
- PurposeIn the present study, a systematic revision in the Medline was conducted to determine the somatic mutation in gangliogliomas.
- Closing excerpt
- ConclusionBRAFV600E mutation was the most common alteration observed in gangliogliomas, whereas mutations in other genes, such as FGFR1, H3K27M, KRAS, IDH1, and RAF1, were rare.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (143 words)
PurposeIn the present study, a systematic revision in the Medline was conducted to determine the somatic mutation in gangliogliomas.MethodsA Medline search for relevant publications up to October 2024 using the key phrase "ganglioglioma mutation" led to the retrieval of 297 studies. This corpus provided the basis for the present review. The records without abstract or descriptions of somatic mutations were excluded. Only records in the English language were considered.ResultsA total of 43 papers were evaluated, reporting a total of 1360 cases of ganglioglioma. Among them, 528 cases presented mutations in 6 genes: BRAFV600E, FGFR1, H3K27M, KRAS, IDH1, and RAF1. The most common mutation was BRAFV600E present in 36.94%, followed by the mutation in FGFR1, reported in 1.18% of cases.ConclusionBRAFV600E mutation was the most common alteration observed in gangliogliomas, whereas mutations in other genes, such as FGFR1, H3K27M, KRAS, IDH1, and RAF1, were rare.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41721014 · DOI · PMC12923415
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Gangliogliomas: an intriguing tumor entity associated with focal epilepsies [5]
- Research article Factors associated with seizure freedom in the surgical resection of glioneuronal tumors [6]
- Research article Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation [7]
- Research article Cortical architectural abnormalities and MIB1 immunoreactivity in gangliogliomas: a study of 60 patients with intracranial tumors [8]
- Research article Hemifacial seizures and cerebellar ganglioglioma: an epilepsy syndrome of infancy with seizures of cerebellar origin [9]
- Research article Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours [10]
References
- Pekmezci M, Villanueva-Meyer JE, Goode B, Van Ziffle J, Onodera C, Grenert JP, et al.. The genetic landscape of ganglioglioma. . 2018. PMID 29880043 · DOI · PMC5992851
- del Bufalo F, Carai A, Figà-Talamanca L, Pettorini B, Mallucci C, Giangaspero F, et al.. Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent. . 2014. PMID 25524464 · DOI · PMC4279809
- Stone TJ, Keeley A, Virasami A, Harkness W, Tisdall M, Izquierdo Delgado E, et al.. Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours. . 2018. PMID 29058119 · DOI · PMC5756244
- Pereira BJA, Oba-Shinjo SM, de Azevedo IKH, Casal YR, Tzu WH, de Almeida AN, et al.. Molecular features in gangliogliomas: a systematic review. . 2026. PMID 41721014 · DOI · PMC12923415
- Blümcke I, Wiestler OD. Gangliogliomas: an intriguing tumor entity associated with focal epilepsies. J Neuropathol Exp Neurol. 2002. PMID 12125736 · DOI
- Englot DJ, Berger MS, Barbaro NM, Chang EF. Factors associated with seizure freedom in the surgical resection of glioneuronal tumors. Epilepsia. 2012. PMID 21933181 · DOI
- Wong M. Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. Epilepsia. 2008. PMID 17727667 · DOI · PMC3934641
- Prayson RA, Khajavi K, Comair YG. Cortical architectural abnormalities and MIB1 immunoreactivity in gangliogliomas: a study of 60 patients with intracranial tumors. J Neuropathol Exp Neurol. 1995. PMID 7541447 · DOI
- Harvey AS, Jayakar P, Duchowny M, Resnick T, Prats A, Altman N, et al.. Hemifacial seizures and cerebellar ganglioglioma: an epilepsy syndrome of infancy with seizures of cerebellar origin. Ann Neurol. 1996. PMID 8687198 · DOI
- Blumcke I, Budday S, Poduri A, Lal D, Kobow K, Baulac S. Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours. Lancet Neurol. 2021. PMID 34687638 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
See how EvidenceLib is built. Spotted an error? Email support@evidencehelix.com.
Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.