ArticleJournal of neuro-oncology2019
Multiplex ligation-dependent probe amplification analysis is useful for detecting a copy number gain of the FGFR1 tyrosine kinase domain in dysembryoplastic neuroepithelial tumors.
Article in Journal of neuro-oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed.
- 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
- Clinicopathological features of dysembryoplastic neuroepithelial tumor: a case series.Journal of medical case reports · 2023Review
- A clinicopathological analysis of supratentorial ependymoma, ZFTA fusion-positive: utility of immunohistochemical detection of CDKN2A alterations and characteristics of the immune microenvironment.Brain tumor pathology · 2023Article
- Case Report: A novelFrontiers in oncology · 2022Article
- Implications of BRAF V600E mutation in gliomas: Molecular considerations, prognostic value and treatment evolution.Frontiers in oncology · 2022Review
- Molecular alterations of low-grade gliomas in young patients: Strategies and platforms for routine evaluation.Neuro-oncology practice · 2021Review
- Pediatric low-grade glioma in the era of molecular diagnostics.Acta neuropathologica communications · 2020Review
- Review
Corrections and comments
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Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeDysembryoplastic neuroepithelial tumors (DNTs) are slow-growing glioneuronal tumors, and their genetic backgrounds are getting unveiled. Recently, fibroblast growth factor receptor 1 internal tandem duplication (FGFR1-ITD) of the tyrosine kinase domain (TKD) has been demonstrated by whole-genome sequencing. METHODS AND
resultsHere, we analyzed 22 DNTs using multiplex ligation-dependent probe amplification (MLPA) with formalin-fixed paraffin-embedded specimens and found a copy number gain in TKD of FGFR1 (13 cases, 59%), which suggested the presence of FGFR1-ITD. Another 5 DNTs harbored FGFR1 hot spot mutations including a double mutant case, and FGFR1 alterations were detected in 18 DNTs (82%). The BRAF V600E mutation, another important mutation in DNTs, was not observed.
conclusionsWith recent findings of less frequent or absent FGFR1-ITD in pilocytic astrocytomas or rosette-forming glioneuronal tumors, the analysis of FGFR1 aberrations, especially FGFR1-ITD, was suggested to be helpful to discriminate DNTs from their histological mimics.
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Registered trials
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