Rapid intraoperative amplicon sequencing of CNS tumor markers
Currently, central nervous system tumors are diagnosed with an integrated diagnostic approach that combines histopathological examination with molecular genetic profiling, which requires days to weeks to achieve a precise and informative classification of CNS tumors. This study demonstrates the feas...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | Computational and Structural Biotechnology Journal |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2001037024003787 |
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| author | Maximilian Evers Björn Brändl Christian Rohrandt Carolin Kubelt-Kwamin Franz-Josef Müller Dominik Danso André Maicher Gaojianyong Wang Sönke Friedrichsen Stephan Kolkenbrock |
| author_facet | Maximilian Evers Björn Brändl Christian Rohrandt Carolin Kubelt-Kwamin Franz-Josef Müller Dominik Danso André Maicher Gaojianyong Wang Sönke Friedrichsen Stephan Kolkenbrock |
| author_sort | Maximilian Evers |
| collection | DOAJ |
| description | Currently, central nervous system tumors are diagnosed with an integrated diagnostic approach that combines histopathological examination with molecular genetic profiling, which requires days to weeks to achieve a precise and informative classification of CNS tumors. This study demonstrates the feasibility of rapid multiplex amplicon nanopore sequencing for identifying critical mutations relevant to molecular stratification of brain tumors within the timeframe of standard resection surgery. Utilizing live analysis of nanopore sequencing data, we evaluated the brain tumor-associated molecular markers IDH1 R132, IDH2 R172, pTERT C228 and C250, H3F3A K27 and G34, Hist1H3B K27, and BRAF V600. Our method achieved a turnaround time of 105 min at the point-of-care from receipt of a tumor biopsy to result with the potential to impact surgical strategy. Our approach can be integrated with recently developed DNA methylation-based diagnostic classification systems, corroborating diagnoses and even further specifying tumor grades, thus enabling a multimodal diagnostic intraoperative assessment of CNS malignancies. |
| format | Article |
| id | doaj-art-7eaf4e7f59c545a88858bb85efca6081 |
| institution | OA Journals |
| issn | 2001-0370 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Computational and Structural Biotechnology Journal |
| spelling | doaj-art-7eaf4e7f59c545a88858bb85efca60812025-08-20T01:58:08ZengElsevierComputational and Structural Biotechnology Journal2001-03702024-12-0126515710.1016/j.csbj.2024.11.007Rapid intraoperative amplicon sequencing of CNS tumor markersMaximilian Evers0Björn Brändl1Christian Rohrandt2Carolin Kubelt-Kwamin3Franz-Josef Müller4Dominik Danso5André Maicher6Gaojianyong Wang7Sönke Friedrichsen8Stephan Kolkenbrock9altona Diagnostics GmbH, Hamburg, Germany; Institute of Biology and Biotechnology of Plants, University of Münster, Münster, GermanyDepartment of Psychiatry and Psychotherapy, Christian-Albrechts-Universität zu Kiel, Kiel, GermanyDepartment of Psychiatry and Psychotherapy, Christian-Albrechts-Universität zu Kiel, Kiel, GermanyDepartment of Neurosurgery, University Medical Center Schleswig-Holstein UKSH, Campus Kiel, Kiel, GermanyDepartment of Psychiatry and Psychotherapy, Christian-Albrechts-Universität zu Kiel, Kiel, Germany; Department of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin, Germanyaltona Diagnostics GmbH, Hamburg, Germanyaltona Diagnostics GmbH, Hamburg, GermanyDepartment of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin, Germanyaltona Diagnostics GmbH, Hamburg, Germanyaltona Diagnostics GmbH, Hamburg, Germany; Correspondence to: Stephan Kolkenbrock, altona Diagnostics GmbH, Hamburg, Hamburg, Germany.Currently, central nervous system tumors are diagnosed with an integrated diagnostic approach that combines histopathological examination with molecular genetic profiling, which requires days to weeks to achieve a precise and informative classification of CNS tumors. This study demonstrates the feasibility of rapid multiplex amplicon nanopore sequencing for identifying critical mutations relevant to molecular stratification of brain tumors within the timeframe of standard resection surgery. Utilizing live analysis of nanopore sequencing data, we evaluated the brain tumor-associated molecular markers IDH1 R132, IDH2 R172, pTERT C228 and C250, H3F3A K27 and G34, Hist1H3B K27, and BRAF V600. Our method achieved a turnaround time of 105 min at the point-of-care from receipt of a tumor biopsy to result with the potential to impact surgical strategy. Our approach can be integrated with recently developed DNA methylation-based diagnostic classification systems, corroborating diagnoses and even further specifying tumor grades, thus enabling a multimodal diagnostic intraoperative assessment of CNS malignancies.http://www.sciencedirect.com/science/article/pii/S2001037024003787CNS tumorsAmplicon sequencingTumor markersNanoporeIntraoperative |
| spellingShingle | Maximilian Evers Björn Brändl Christian Rohrandt Carolin Kubelt-Kwamin Franz-Josef Müller Dominik Danso André Maicher Gaojianyong Wang Sönke Friedrichsen Stephan Kolkenbrock Rapid intraoperative amplicon sequencing of CNS tumor markers Computational and Structural Biotechnology Journal CNS tumors Amplicon sequencing Tumor markers Nanopore Intraoperative |
| title | Rapid intraoperative amplicon sequencing of CNS tumor markers |
| title_full | Rapid intraoperative amplicon sequencing of CNS tumor markers |
| title_fullStr | Rapid intraoperative amplicon sequencing of CNS tumor markers |
| title_full_unstemmed | Rapid intraoperative amplicon sequencing of CNS tumor markers |
| title_short | Rapid intraoperative amplicon sequencing of CNS tumor markers |
| title_sort | rapid intraoperative amplicon sequencing of cns tumor markers |
| topic | CNS tumors Amplicon sequencing Tumor markers Nanopore Intraoperative |
| url | http://www.sciencedirect.com/science/article/pii/S2001037024003787 |
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