ArticleActa neuropathologica communications2022
Droplet digital PCR-based analyses for robust, rapid, and sensitive molecular diagnostics of gliomas.
Article in Acta neuropathologica communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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38 citing papers in PubMed, 51 citations in OpenAlex.
- Circulating tumor DNA-based detection of molecular residual disease in isocitrate dehydrogenase-mutant cholangiocarcinoma for biomarker-guided therapy.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- A Dual-Channel Synergistic Ultrasensitive Biosensor for Tumor Liquid Biopsy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Morphofunctional Heterogeneity and Plasticity of Glioblastoma Cells Induced to Senescence by Temozolomide.Aging cell · 2026Article
- Detection of TERT Promoter Mutations in Papillary Thyroid Carcinoma Using Droplet Digital PCR and Their Association with Aggressive Tumor Features.International journal of molecular sciences · 2026Article
- Identification of monotonically classifying pairs of genes for ordinal disease outcomes.Bioinformatics advances · 2026Article
- The Clinical Utility of Cell-Free DNA in Brain Tumor Management: A Comprehensive Review.Journal of molecular neuroscience : MN · 2025Review
- Unveiling the cut-and-repair cycle of designer nucleases in human stem and T cells via CLEAR-time dPCR.Nature communications · 2025Article
- Ultra-Fast IntraoperativeInternational journal of molecular sciences · 2025Article
- A Novel Droplet Digital PCR Assay for BRCA1 and RAD51C Methylation: Advancing Homologous Recombination Deficiency Detection in Ovarian Cancer.The Journal of molecular diagnostics : JMD · 2025Article
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-ExistingBiomedicines · 2025Article
- Challenging CDKN2A assessment in BRAF-altered gliomas: lessons from a pleomorphic xanthoastrocytoma-enriched cohort.Acta neuropathologica communications · 2025Article
- The clinical and molecular landscape of diffuse hemispheric glioma, H3 G34-mutant.Neuro-oncology · 2025Article
- Droplet Digital PCR Improves Detection ofInternational journal of molecular sciences · 2025Article
- Ultra-rapid droplet digital PCR enables intraoperative tumor quantification.Med (New York, N.Y.) · 2025Article
- Rapid diagnosis of adult-type diffuse glioma using a layered scheme.BMC medicine · 2025Observational
- A novel KRAS exon 2 drop-off digital PCR assay for mutation detection in cell-free DNA of cancer patients.Diagnostic pathology · 2025Article
- Strong nuclear expression of HOXB13 is a reliable surrogate marker for DNA methylome profiling to distinguish myxopapillary ependymoma from spinal ependymoma.Acta neuropathologica · 2025Article
- Beyond traditional biopsies: the emerging role of ctDNA and MRD on breast cancer diagnosis and treatment.Discover oncology · 2025Review
- Clinicopathological and molecular features of genome-stable colorectal cancers.Histology and histopathology · 2025Article
- Advancing artemisinin resistance monitoring using a high sensitivity ddPCR assay for Pfkelch13 mutation detection in Asia.Scientific reports · 2025Article
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Authors and funding
5 authors at 2 institutions in 1 country.
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Abstract
Classification of gliomas involves the combination of histological features with molecular biomarkers to establish an integrated histomolecular diagnosis. Here, we report on the application and validation of a set of molecular assays for glioma diagnostics based on digital PCR technology using the QX200™ Droplet Digital™ PCR (ddPCR) system. The investigated ddPCR-based assays enable the detection of diagnostically relevant glioma-associated mutations in the IDH1, IDH2, H3-3A, BRAF, and PRKCA genes, as well as in the TERT promoter. In addition, ddPCR-based assays assessing diagnostically relevant copy number alterations were studied, including 1p/19q codeletion, gain of chromosome 7 and loss of chromosome 10 (+ 7/-10), EGFR amplification, duplication of the BRAF locus, and CDKN2A homozygous deletion. Results obtained by ddPCR were validated by other methods, including immunohistochemistry, Sanger sequencing, pyrosequencing, microsatellite analyses for loss of heterozygosity, as well as real-time PCR- or microarray-based copy number assays. Particular strengths of the ddPCR approach are (1) its high analytical sensitivity allowing for reliable detection of mutations even with low mutant allele frequencies, (2) its quantitative determination of mutant allele frequencies and copy number changes, and (3) its rapid generation of results within a single day. Thus, in line with other recent studies our findings support ddPCR analysis as a valuable approach for molecular glioma diagnostics in a fast, quantitative and highly sensitive manner.
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