The DOI matches its Crossref record; 52 of the 52 references it cites were found in a registry or an index.
Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience
Open accessAbstract
Recently, we described a machine learning approach for classification of central nervous system tumors based on the analysis of genome-wide DNA methylation patterns [6]. Here, we report on DNA methylation-based central nervous system (CNS) tumor diagnostics conducted in our institution between the years 2015 and 2018. In this period, more than 1000 tumors from the neurosurgical departments in Heidelberg and Mannheim and more than 1000 tumors referred from external institutions were subjected to DNA methylation analysis for diagnostic purposes. We describe our current approach to the integrated diagnosis of CNS tumors with a focus on constellations with conflicts between morphological and molecular genetic findings. We further describe the benefit of integrating DNA copy-number alterations into diagnostic considerations and provide a catalog of copy-number changes for individual DNA methylation classes. We also point to several pitfalls accompanying the diagnostic implementation of DNA methylation profiling and give practical suggestions for recurring diagnostic scenarios.
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Cites
The 2007 WHO Classification of Tumours of the Central Nervous System
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Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas
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DNA methylation-based classification of central nervous system tumours
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Self-citationMolecular subgroups of medulloblastoma: the current consensus
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Self-citationNew Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs
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Self-citationMutational landscape and clonal architecture in grade II and III gliomas
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Cited by
The 2021 WHO classification of tumors of the central nervous system: a summary
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Self-citationSarcoma classification by DNA methylation profiling
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Self-citationArtificial intelligence-based multi-omics analysis fuels cancer precision medicine
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Metadata
- Authors
- Capper, D., Stichel, D., Sahm, F., Jones, D. T. W., Schrimpf, D., Sill, M., Schmid, S., Hovestadt, V., Reuss, D. E., Koelsche, C., Reinhardt, A., Wefers, A. K., Huang, K., Sievers, P., Ebrahimi, A., Schöler, A., Teichmann, D., Koch, A., Hänggi, D., Unterberg, A., Platten, M., Wick, W., Witt, O., Milde, T., Korshunov, A., Pfister, S. M., & von Deimling, A.
- Venue
- Acta Neuropathologica
- Published
- 2018-07-02
- Volume
- 136
- Issue
- 2
- Pages
- 181-210
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- OpenAlex
- W2811036728
- Cited by
- 567
- References
- 52
- FWCI
- 18.65
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Capper, D., Stichel, D., Sahm, F., Jones, D. T. W., Schrimpf, D., Sill, M., Schmid, S., Hovestadt, V., Reuss, D. E., Koelsche, C., Reinhardt, A., Wefers, A. K., Huang, K., Sievers, P., Ebrahimi, A., Schöler, A., Teichmann, D., Koch, A., Hänggi, D., . . . von Deimling, A. (2018). Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience. Acta Neuropathologica. https://doi.org/10.1007/s00401-018-1879-y
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.