Oncogenic Fusions in Gliomas: An Institutional Experience
Language English Country Greece Media print
Document type Journal Article
PubMed
35347013
DOI
10.21873/anticanres.15671
PII: 42/4/1933
Knihovny.cz E-resources
- Keywords
- Glioma, gene fusion, molecular genetics, next-generation sequencing, targeted therapy,
- MeSH
- Adaptor Proteins, Signal Transducing genetics MeSH
- Glioma * genetics pathology MeSH
- Quality of Life MeSH
- Humans MeSH
- Oncogene Fusion * MeSH
- Oncogenes genetics MeSH
- Protein Serine-Threonine Kinases MeSH
- Microtubule-Associated Proteins genetics MeSH
- Cross-Sectional Studies MeSH
- Receptor-Like Protein Tyrosine Phosphatases, Class 5 genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Names of Substances
- Adaptor Proteins, Signal Transducing MeSH
- AMBRA1 protein, human MeSH Browser
- Protein Serine-Threonine Kinases MeSH
- Microtubule-Associated Proteins MeSH
- PTPRZ1 protein, human MeSH Browser
- SRPK2 protein, human MeSH Browser
- TACC3 protein, human MeSH Browser
- Receptor-Like Protein Tyrosine Phosphatases, Class 5 MeSH
BACKGROUND/AIM: Gliomas are primary malignancies of the central nervous system (CNS). High-grade gliomas are associated with poor prognosis and modest survival rates despite intensive multimodal treatment strategies. Targeting gene fusions is an emerging therapeutic approach for gliomas that allows application of personalized medicine principles. The aim of this study was to identify detectable fusion oncogenes that could serve as predictors of currently available or newly developed targeted therapeutics in cross-sectional samples from glioma patients using next-generation sequencing (NGS). PATIENTS AND METHODS: A total of 637 patients with glial and glioneuronal tumours of the CNS who underwent tumour resection between 2017 and 2020 were enrolled. Detection of fusion transcripts in FFPE tumour tissue was performed by a TruSight Tumour 170 assay and two FusionPlex kits, Solid Tumour and Comprehensive Thyroid and Lung. RESULTS: Oncogene fusions were identified in 33 patients. The most common fusion was the KIAA1549-BRAF fusion, detected in 13 patients, followed by FGFR fusions (FGFR1-TACC1, FGFR2-CTNNA3, FGFR3-TACC3, FGFR3-CKAP5, FGFR3-AMBRA1), identified in 10 patients. Other oncogene fusions were also infrequently diagnosed, including MET fusions (SRPK2-MET and PTPRZ1-MET) in 2 patients, C11orf95-RELA fusions in 2 patients, EGFR-SEPT14 fusion in 2 patients, and individual cases of SRGAP3-BRAF, RAF1-TRIM2, EWSR1-PALGL1 and TERT-ALK fusions. CONCLUSION: The introduction of NGS techniques provides additional information about tumour molecular alterations that can aid the multimodal management of glioma patients. Patients with gliomas positive for particular targetable gene fusions may benefit from experimental therapeutics, enhancing their quality of life and prolonging survival rates.
Biomedical Center Faculty of Medicine in Pilsen Charles University Pilsen Czech Republic
Biopticka laboratory s r o Pilsen Czech Republic
Cytopathos s r o Bratislava Slovak Republic
Department of Biology Faculty of Medicine in Pilsen Charles University Pilsen Czech Republic
Department of Immunochemical Diagnostics University Hospital Pilsen Pilsen Czech Republic
Department of Neurology University Hospital Pilsen Pilsen Czech Republic
Department of Neurosurgery University Hospital Pilsen Pilsen Czech Republic
Sikl's Department of Pathology University Hospital Pilsen Pilsen Czech Republic;
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