ArticleBrain pathology (Zurich, Switzerland)2014
BRAF V600E mutation is associated with mTOR signaling activation in glioneuronal tumors.
Article in Brain pathology (Zurich, Switzerland), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 3 of them syntheses that pooled it.
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Who cites it
73 citing papers in PubMed, 3 syntheses or guidelines pooled it, 151 citations in OpenAlex.
- Molecular features in gangliogliomas: a systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- Clinical Characteristics of BRAF V600E Gene Mutation in Patients of Epilepsy-Associated Brain Tumor: a Meta-analysis.Journal of molecular neuroscience : MN · 2021Pooled it
- Acute Neurological Complications of Brain Tumors and Immune Therapies, a Guideline for the Neuro-hospitalist.Current neurology and neuroscience reports · 2020Guideline
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- State of the art: glioma-associated epilepsy-bridging tumor biology and epileptogenesis.Neurological research and practice · 2025Review
- The excitatory milieu in glioma: Mechanisms and therapeutic avenues.Neuro-oncology · 2025Review
- Brain Tumor Related Epilepsy: Pathophysiology and Multimodal Approach to Management.Current oncology reports · 2025Review
- BRAF V600E Mutation in Ganglioglioma: Impact on Epileptogenicity and Implications for Surgical Strategy.European journal of neurology · 2025Article
- Polymorphous low-grade neuroepithelial tumor of the young.Surgical neurology international · 2025Article
- Single-nucleus RNA sequencing: immature excitatory neurons and transformed glia build human BRAFBrain communications · 2025Article
- WONOEP appraisal: The role of glial cells in focal malformations associated with early onset epilepsies.Epilepsia · 2024Review
- From bedside to bench: New insights in epilepsy-associated tumors based on recent classification updates and animal models on brain tumor networks.Molecular oncology · 2024Review
- Metabolism: an important player in glioma survival and development.Discover oncology · 2024Review
- Extra-temporal pediatric low-grade gliomas and epilepsy.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Gliomagenesis, Epileptogenesis, and Remodeling of Neural Circuits: Relevance for Novel Treatment Strategies in Low- and High-Grade Gliomas.International journal of molecular sciences · 2024Review
- Mechanism of targeting the mTOR pathway to regulate ferroptosis in NSCLC with different EGFR mutations.Oncology letters · 2024Article
- Multi-omics technologies and molecular biomarkers in brain tumor-related epilepsy.CNS neuroscience & therapeutics · 2024Review
- Glioma genetic profiles associated with electrophysiologic hyperexcitability.Neuro-oncology · 2024Article
- Brain tumor-related epilepsy management: A Society for Neuro-oncology (SNO) consensus review on current management.Neuro-oncology · 2024Review
13 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BRAF V600E mutations have been recently reported in glioneuronal tumors (GNTs). To evaluate the expression of the BRAF V600E mutated protein and its association with activation of the mammalian target of rapamycin (mTOR) pathway, immunophenotype and clinical characteristics in GNTs, we investigated a cohort of 174 GNTs. The presence of BRAF V600E mutations was detected by direct DNA sequencing and BRAF V600E immunohistochemical detection. Expression of BRAF-mutated protein was detected in 38/93 (40.8%) gangliogliomas (GGs), 2/4 (50%) desmoplastic infantile gangliogliomas (DIGs) and 23/77 (29.8%) dysembryoplastic neuroepithelial tumors (DNTs) by immunohistochemistry. In both GGs and DNTs, the presence of BRAF V600E mutation was significantly associated with the expression of CD34, phosphorylated ribosomal S6 protein (pS6; marker of mTOR pathway activation) in dysplastic neurons and synaptophysin (P < 0.05). In GGs, the presence of lymphocytic cuffs was more frequent in BRAF-mutated cases (31 vs. 15.8%; P=0.001). The expression of both BRAF V600E and pS6 was associated with a worse postoperative seizure outcome in GNT (P < 0.001). Immunohistochemical detection of BRAF V600E-mutated protein may be valuable in the diagnostic evaluation of these glioneuronal lesions and the observed association with mTOR activation may aid in the development of targeted treatment involving specific pathogenic pathways.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.