ArticleBrain pathology (Zurich, Switzerland)2017
Molecular Diagnostics of Gliomas Using Next Generation Sequencing of a Glioma-Tailored Gene Panel.
Article in Brain pathology (Zurich, Switzerland), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 2 of them syntheses that pooled it.
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Who cites it
97 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Molecular Biomarker Testing for the Diagnosis of Diffuse Gliomas.Archives of pathology & laboratory medicine · 2022Guideline
- Diagnostic test accuracy and cost-effectiveness of tests for codeletion of chromosomal arms 1p and 19q in people with glioma.The Cochrane database of systematic reviews · 2022Pooled it
- Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma.Acta neuropathologica communications · 2020Trial
- Detection of Copy-Number Variations in CNS Tumours From Off-Target Reads of Hybrid-Capture Sequencing.Neuropathology and applied neurobiology · 2026Article
- Impact of an evolving classification system on diffuse glioma repositories: experience from the Sydney brain tumour bank.Journal of neuro-oncology · 2026Article
- From Data to Decision: Integrating Bioinformatics into Glioma Patient Stratification and Immunotherapy Selection.International journal of molecular sciences · 2026Review
- MixBranchNet: a task-adaptive network for glioma segmentation and genotype prediction by exploiting spatial-spectral correlations in CEST MRI.Frontiers in oncology · 2026Article
- 5T chemical exchange saturation transfer imaging improves glioma grading and genotyping prediction: a supplement to 3T diffusion and perfusion MRI.Journal of translational medicine · 2025Article
- Ultra-Fast IntraoperativeInternational journal of molecular sciences · 2025Article
- Distinct molecular profile and outcome of oligodendroglioma, IDH-mutant, 1p/19q-codeleted, and TERTp-wildtype: A grade 1 oligodendroglioma of young patients?Neuro-oncology · 2025Article
- Article
- Strong nuclear expression of HOXB13 is a reliable surrogate marker for DNA methylome profiling to distinguish myxopapillary ependymoma from spinal ependymoma.Acta neuropathologica · 2025Article
- Microglia induce an interferon-stimulated gene expression profile in glioblastoma and increase glioblastoma resistance to temozolomide.Neuropathology and applied neurobiology · 2024Article
- A clinically feasible algorithm for the parallel detection of glioma-associated copy number variation markers based on shallow whole genome sequencing.The journal of pathology. Clinical research · 2024Article
- Review
- Complex Diagnostic Challenges in Glioblastoma: The Role ofPharmaceuticals (Basel, Switzerland) · 2024Review
- A clinically compatible in vitro drug-screening platform identifies therapeutic vulnerabilities in primary cultures of brain metastases.Journal of neuro-oncology · 2024Article
- Prognostic factors to predict postoperative survival in patients with recurrent glioblastoma.World neurosurgery: X · 2024Article
- Potential Diagnostic and Clinical Significance of Selected Genetic Alterations in Glioblastoma.International journal of molecular sciences · 2024Review
- Article
37 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Current classification of gliomas is based on histological criteria according to the World Health Organization (WHO) classification of tumors of the central nervous system. Over the past years, characteristic genetic profiles have been identified in various glioma types. These can refine tumor diagnostics and provide important prognostic and predictive information. We report on the establishment and validation of gene panel next generation sequencing (NGS) for the molecular diagnostics of gliomas. We designed a glioma-tailored gene panel covering 660 amplicons derived from 20 genes frequently aberrant in different glioma types. Sensitivity and specificity of glioma gene panel NGS for detection of DNA sequence variants and copy number changes were validated by single gene analyses. NGS-based mutation detection was optimized for application on formalin-fixed paraffin-embedded tissue specimens including small stereotactic biopsy samples. NGS data obtained in a retrospective analysis of 121 gliomas allowed for their molecular classification into distinct biological groups, including (i) isocitrate dehydrogenase gene (IDH) 1 or 2 mutant astrocytic gliomas with frequent α-thalassemia/mental retardation syndrome X-linked (ATRX) and tumor protein p53 (TP53) gene mutations, (ii) IDH mutant oligodendroglial tumors with 1p/19q codeletion, telomerase reverse transcriptase (TERT) promoter mutation and frequent Drosophila homolog of capicua (CIC) gene mutation, as well as (iii) IDH wildtype glioblastomas with frequent TERT promoter mutation, phosphatase and tensin homolog (PTEN) mutation and/or epidermal growth factor receptor (EGFR) amplification. Oligoastrocytic gliomas were genetically assigned to either of these groups. Our findings implicate gene panel NGS as a promising diagnostic technique that may facilitate integrated histological and molecular glioma classification.
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