ArticleActa neuropathologica2016
Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology.
Article in Acta neuropathologica, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 217 papers, 5 of them syntheses that pooled it.
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Who cites it
217 citing papers in PubMed, 5 syntheses or guidelines pooled it, 394 citations in OpenAlex.
- A systematic study of molecular diagnosis, treatment, and prognosis in infant-type hemispheric glioma: An individual patient data meta-analysis of 164 patients.Neuro-oncology · 2026Pooled it
- Molecular features in gangliogliomas: a systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- Systematic literature review of the epidemiology of neurotrophic tyrosine receptor kinase positive solid tumor sites.Future oncology (London, England) · 2025Pooled it
- Molecular Biomarker Testing for the Diagnosis of Diffuse Gliomas.Archives of pathology & laboratory medicine · 2022Guideline
- cIMPACT-NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT-Utrecht meeting on future CNS tumor classification and grading.Brain pathology (Zurich, Switzerland) · 2020Guideline
- Molecular grouping and outcomes of young children with newly diagnosed ependymoma treated on the multi-institutional SJYC07 trial.Neuro-oncology · 2019Trial
- Desmoplastic infantile astrocytoma/ganglioglioma with rare BRAF V600D mutation.Pediatric blood & cancer · 2017Trial
- Pediatric low-grade glial, glioneuronal and neuronal tumors: a retrospective study of 85 cases.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Beyond Oligodendroglioma: An Integrated Diagnostic Approach to CNS Tumors with Oligodendroglioma-like Morphology, with a Focus on Morphological Pitfalls, Immunoprofiles, and Molecular Signatures.International journal of molecular sciences · 2026Review
- Article
- Ganglioglioma and gangliocytoma: a review for pathologists.Journal of pathology and translational medicine · 2026Article
- FGFR alterations and potential role of FGFR inhibitors in pediatric brain tumors.Neuro-oncology advances · 2026Review
- Pediatric low-grade epilepsy-associated tumors (LEATS): neuroimaging review and genetics update.Pediatric radiology · 2026Review
- Long-term radiological progression after resection of dysembryoplastic neuroepithelial tumors: patterns and prognostic factors.Journal of neuro-oncology · 2026Article
- Long-term follow-up of dysembryoplastic neuroepithelial tumour (DNET) with recurrent bleeds: a case report and review of literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Review
- CUX1::MET fusion defines an indolent subtype of diffuse low-grade glioma, MAPK pathway-altered.Acta neuropathologica communications · 2026Article
- Diencephalic Syndrome: Clinical Features, Pathophysiology, and Long-Term Outcomes.Children (Basel, Switzerland) · 2026Review
- Diffuse low-grade glioma with a rare BRAF p.T599dup mutation in a child: importance of clinicopathological and molecular correlation.Brain tumor pathology · 2026Article
- Unveiling a genetic rarity: intracranial sarcomatous tumor with EWSR1::PATZ1 fusion-a case report and review of the literature.Brain tumor pathology · 2026Article
- "From misdiagnosis to precision medicine: strengthening pediatric neuro-oncology care in LMICs toward equitable pLGG outcomes".Frontiers in oncology · 2026Review
157 more citing papers are in PubMed but not listed here.
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Authors and funding
40 authors at 9 institutions in 3 countries.
Funding
Abstract
Low-grade neuroepithelial tumors (LGNTs) are diverse CNS tumors presenting in children and young adults, often with a history of epilepsy. While the genetic profiles of common LGNTs, such as the pilocytic astrocytoma and 'adult-type' diffuse gliomas, are largely established, those of uncommon LGNTs remain to be defined. In this study, we have used massively parallel sequencing and various targeted molecular genetic approaches to study alterations in 91 LGNTs, mostly from children but including young adult patients. These tumors comprise dysembryoplastic neuroepithelial tumors (DNETs; n = 22), diffuse oligodendroglial tumors (d-OTs; n = 20), diffuse astrocytomas (DAs; n = 17), angiocentric gliomas (n = 15), and gangliogliomas (n = 17). Most LGNTs (84 %) analyzed by whole-genome sequencing (WGS) were characterized by a single driver genetic alteration. Alterations of FGFR1 occurred frequently in LGNTs composed of oligodendrocyte-like cells, being present in 82 % of DNETs and 40 % of d-OTs. In contrast, a MYB-QKI fusion characterized almost all angiocentric gliomas (87 %), and MYB fusion genes were the most common genetic alteration in DAs (41 %). A BRAF:p.V600E mutation was present in 35 % of gangliogliomas and 18 % of DAs. Pathogenic alterations in FGFR1/2/3, BRAF, or MYB/MYBL1 occurred in 78 % of the series. Adult-type d-OTs with an IDH1/2 mutation occurred in four adolescents, the youngest aged 15 years at biopsy. Despite a detailed analysis, novel genetic alterations were limited to two fusion genes, EWSR1-PATZ1 and SLMAP-NTRK2, both in gangliogliomas. Alterations in BRAF, FGFR1, or MYB account for most pathogenic alterations in LGNTs, including pilocytic astrocytomas, and alignment of these genetic alterations and cytologic features across LGNTs has diagnostic implications. Additionally, therapeutic options based upon targeting the effects of these alterations are already in clinical trials.
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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.