ArticleBrain pathology (Zurich, Switzerland)2018
Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma.
Article in Brain pathology (Zurich, Switzerland), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 2 of them syntheses that pooled it.
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Who cites it
53 citing papers in PubMed, 2 syntheses or guidelines pooled it, 144 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
- Circumscribed/non-diffuse histology confers a better prognosis in H3K27M-mutant gliomas.Acta neuropathologica · 2018Pooled it
- Ganglioglioma and gangliocytoma: a review for pathologists.Journal of pathology and translational medicine · 2026Article
- Article
- H3 K27M mutation in rosette-forming glioneuronal tumors: a potential diagnostic pitfall.Virchows Archiv : an international journal of pathology · 2025Article
- Avoidant/restrictive food intake disorder-like syndrome and cerebellar tumor in an adolescent: a case report.Journal of eating disorders · 2025Article
- Clinicopathological analysis of BRAF and non-BRAF MAPK pathway-altered gliomas in paediatric and adult patients: a single-institution study of 40 patients.Journal of clinical pathology · 2025Article
- Detection of H3F3A K27M or BRAF V600E in liquid biopsies of brain tumor patients as diagnostic and monitoring biomarker: impact of tumor localization and sampling method.Acta neuropathologica · 2025Article
- Phenotypic and epigenetic heterogeneity in FGFR2-fused glial and glioneuronal tumours.Neuropathology and applied neurobiology · 2024Article
- Molecular markers for pediatric low-grade glioma.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Molecular and Pathological Features of Paediatric High-Grade Gliomas.International journal of molecular sciences · 2024Review
- Three Years of Progression-free after Biopsy of BRAF V600E-negative Ganglioglioma in the Adult Brainstem: A Case Report and the Literature Review.NMC case report journal · 2024Article
- H3 K27-altered diffuse midline glioma of the thalamus with formation of glio-fibrillary globular structures.International journal of clinical and experimental pathology · 2024Article
- Pediatric CNS tumors and 2021 WHO classification: what do oncologists need from pathologists?Frontiers in molecular neuroscience · 2024Review
- A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation.Acta neuropathologica · 2023Article
- Advances in Treatment of Diffuse Midline Gliomas.Current neurology and neuroscience reports · 2023Review
- Optic Pathway Gliomas in Pediatric Population-Current Approach in Diagnosis and Management: Literature Review.Journal of clinical medicine · 2023Review
- Epidemiology, Diagnostic Strategies, and Therapeutic Advances in Diffuse Midline Glioma.Journal of clinical medicine · 2023Review
- Review
- Article
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Authors and funding
18 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ganglioglioma (GG) is a grade I tumor characterized by alterations in the MAPK pathway, including BRAF V600E mutation. Recently, diffuse midline glioma with an H3 K27M mutation was added to the WHO 2016 classification as a new grade IV entity. As co-occurrence of H3 K27M and BRAF V600E mutations has been reported in midline tumors and anaplastic GG, we searched for BRAF V600E and H3 K27M mutations in a series of 54 paediatric midline grade I GG (midline GG) to determine the frequency of double mutations and its relevance for prognosis. Twenty-seven patients (50%) possessed the BRAF V600E mutation. The frequency of the co-occurrence of H3F3A/BRAF mutations at diagnosis was 9.3%. No H3 K27M mutation was detected in the absence of the BRAF V600E mutation. Double-immunostaining revealed that BRAF V600E and H3 K27M mutant proteins were present in both the glial and neuronal components. Immunopositivity for the BRAF V600E mutant protein correlated with BRAF mutation status as detected by massARRAY or digital droplet PCR. The median follow-up of patients with double mutation was 4 years. One patient died of progressive disease 8 years after diagnosis, whereas the four other patients were all alive with stable disease at the last clinical follow-up (at 9 months, 1 year and 7 years) without adjuvant therapy. We demonstrate in this first series of midline GGs that the H3 K27M mutation can occur in association with the BRAF V600E mutation in grade I glioneuronal tumors. Despite the presence of H3 K27M mutations, these cases should not be graded and treated as grade IV tumors because they have a better spontaneous outcome than classic diffuse midline H3 K27M-mutant glioma. These data suggest that H3 K27M cannot be considered a specific hallmark of grade IV diffuse gliomas and highlight the importance of integrated histomolecular diagnosis in paediatric brain tumors.
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