ArticleFrontiers in oncology2020
Multiplexed Droplet Digital PCR Assays for the Simultaneous Screening of Major Genetic Alterations in Tumors of the Central Nervous System.
Article in Frontiers in oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
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- The Clinical Utility of Cell-Free DNA in Brain Tumor Management: A Comprehensive Review.Journal of molecular neuroscience : MN · 2025Review
- Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors.Molecular oncology · 2025Article
- Brain tumoroids: Treatment prediction and drug development for brain tumors with fast, reproducible, and easy-to-use personalized models.Neuro-oncology · 2025Article
- Diagnostic impact of DNA methylation classification in adult and pediatric CNS tumors.Scientific reports · 2025Article
- Serially Quantifying TERT Rearrangement Breakpoints in ctDNA Enables Minimal Residual Disease Monitoring in Patients with Neuroblastoma.Cancer research communications · 2025Article
- Phenotypic and epigenetic heterogeneity in FGFR2-fused glial and glioneuronal tumours.Neuropathology and applied neurobiology · 2024Article
- Molecular diagnostic tools for the World Health Organization (WHO) 2021 classification of gliomas, glioneuronal and neuronal tumors; an EANO guideline.Neuro-oncology · 2023Article
- Clinico-pathological and epigenetic heterogeneity of diffuse gliomas with FGFR3::TACC3 fusion.Acta neuropathologica communications · 2023Article
- Liquid biopsy evaluation of circulating tumor DNA, miRNAs, and cytokines in meningioma patients.Frontiers in neurology · 2023Article
- The evolving use of measurable residual disease in chronic lymphocytic leukemia clinical trials.Frontiers in oncology · 2023Review
- Circulating tumor DNA in Hodgkin lymphoma.Annals of hematology · 2022Review
- The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases.Neuropathology and applied neurobiology · 2022Article
- FGFR1 is a potential therapeutic target in neuroblastoma.Cancer cell international · 2022Article
- Droplet digital PCR-based analyses for robust, rapid, and sensitive molecular diagnostics of gliomas.Acta neuropathologica communications · 2022Article
- Accessible, fast and easy fabrication of hydrophilic-in-hydrophobic microdroplet arrays.PloS one · 2022Article
- Specific and Sensitive Diagnosis ofFrontiers in oncology · 2021Article
- Liquid biopsy with multiplex ligation-dependent probe amplification targeting cell-free tumor DNA in cerebrospinal fluid from patients with adult diffuse glioma.Neuro-oncology advancesArticle
- The potential of liquid biopsy for detection of the KIAA1549-BRAF fusion in circulating tumor DNA from children with pilocytic astrocytoma.Neuro-oncology advancesArticle
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The increased integration of molecular alterations to define tumor type or grade in central nervous system (CNS) tumor classification brings new challenges for the pathologist to make the best use of a precious limited tissue specimen for molecular studies. Within the different methods available to identify gene alterations, the droplet digital PCR (dPCR) constitutes a rapid, cost-effective, and very sensitive tool. In this study, we describe the development and validation of five multiplexed dPCR assays to detect major CNS biomarkers by using only small amounts of DNA extracted from formalin-fixed paraffin-embedded specimens. When compared to HRM-sequencing, NGS-sequencing, RNA-sequencing, or simplex digital PCR assays used as "gold standard" methods, these multiplexed dPCR assays displayed 100% specificity and sensitivity for the simultaneous detection of: 1/BRAF V600E mutation and KIAA1549:BRAF fusion; 2/FGFR1 N546K and K656E mutations and FGFR1 duplication; 3/H3F3A K27M and G34R/V mutations; 4/IDH1 R132X and IDH2 R172X mutations; and 5/TERT promoter mutations C228T and C250T. In light of the increased integration of molecular alteration, we believe that such strategies might help laboratories to optimize their screening strategies for routine diagnosis of pediatric and adult CNS tumors.
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