ArticleOncotarget2017
Droplet digital PCR is a powerful technique to demonstrate frequent FGFR1 duplication in dysembryoplastic neuroepithelial tumors.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 37 citations in OpenAlex.
- Droplet Digital PCR Assessment ofInternational journal of molecular sciences · 2026Article
- FGFR alterations and potential role of FGFR inhibitors in pediatric brain tumors.Neuro-oncology advances · 2026Review
- A diverse landscape of FGFR alterations and co-mutations suggests potential therapeutic strategies in pediatric low-grade gliomas.Nature communications · 2025Article
- Article
- Clinicopathological features of dysembryoplastic neuroepithelial tumor: a case series.Journal of medical case reports · 2023Review
- Pediatric low-grade glioma models: advances and ongoing challenges.Frontiers in oncology · 2023Review
- The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases.Neuropathology and applied neurobiology · 2022Article
- Droplet digital PCR-based analyses for robust, rapid, and sensitive molecular diagnostics of gliomas.Acta neuropathologica communications · 2022Article
- Expanding the clinical phenotype ofCold Spring Harbor molecular case studies · 2022Article
- Molecular alterations of low-grade gliomas in young patients: Strategies and platforms for routine evaluation.Neuro-oncology practice · 2021Review
- Copy Number Variation and Rearrangements Assessment in Cancer: Comparison of Droplet Digital PCR with the Current Approaches.International journal of molecular sciences · 2021Review
- Specific and Sensitive Diagnosis ofFrontiers in oncology · 2021Article
- Pediatric low-grade glioma in the era of molecular diagnostics.Acta neuropathologica communications · 2020Review
- FGFR- gene family alterations in low-grade neuroepithelial tumors.Acta neuropathologica communications · 2020Review
- Multiplexed Droplet Digital PCR Assays for the Simultaneous Screening of Major Genetic Alterations in Tumors of the Central Nervous System.Frontiers in oncology · 2020Article
- Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas.Nature communications · 2019Article
- Multiplex ligation-dependent probe amplification analysis is useful for detecting a copy number gain of the FGFR1 tyrosine kinase domain in dysembryoplastic neuroepithelial tumors.Journal of neuro-oncology · 2019Article
- Duplications of KIAA1549 and BRAF screening by Droplet Digital PCR from formalin-fixed paraffin-embedded DNA is an accurate alternative for KIAA1549-BRAF fusion detection in pilocytic astrocytomas.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Article
- Current and Emerging Applications of Droplet Digital PCR in Oncology.Molecular diagnosis & therapy · 2017Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dysembryoplastic neuroepithelial tumors (DNT) share V600E mutation in the BRAF gene with other low grade neuroepithelial tumors (LGNTs). FGFR1 internal tandem duplication of the tyrosine-kinase domain (FGFR1-ITD), another genetic alteration that also leads to MAP kinase pathway alteration, has been previously reported in LGNTs by whole-genome sequencing. In the present study we searched for FGFR1-ITD by droplet digital PCR (DDPCR™) and for FGFR1 point mutations by HRM-sequencing in a series of formalin-fixed paraffin-embedded (FFPE) LGNTs including 12 DNT, 2 oligodendrogliomas lacking IDH mutation and 1p/19q co- deletion (pediatric-type oligodendrogliomas; PTOs), 3 pediatric diffuse astrocytomas (PDAs), 14 gangliogliomas (GGs) and 5 pilocytic astrocytomas (PAs). We showed by DDPCR™ that 5/12 DNT, but none of the other LGNTs, demonstrated FGFR1-ITD. In addition, these cases also accumulated phosphorylated-FGFR1 protein as shown by immunohistochemistry. FGFR1G539R point mutation was only recorded in one DNT that also showed FGFR1-ITD. Interestingly, these FGFR1 alterations were mutually exclusive from BRAFV600E mutation that was recorded in 13 LGNTs (3 DNTs, 1 PTO, 2 PDAs, 5 GGs and 2 PAs). Therefore, FGFR1 alteration mainly represented by FGFR1-ITD is a frequent event in DNT. DDPCR™ is an easy and alternative method than whole-genome sequencing to detect FGFR1-ITD in FFPE brain tumors, in routine practice.
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