Sarcoma classification by DNA methylation profiling Journal Article
| Authors: | Koelsche, C.; Schrimpf, D.; Stichel, D.; Sill, M.; Sahm, F.; Reuss, D. E.; Blattner, M.; Worst, B.; Heilig, C. E.; Beck, K.; Horak, P.; Kreutzfeldt, S.; Paff, E.; Stark, S.; Johann, P.; Selt, F.; Ecker, J.; Sturm, D.; Pajtler, K. W.; Reinhardt, A.; Wefers, A. K.; Sievers, P.; Ebrahimi, A.; Suwala, A.; Fernández-Klett, F.; Casalini, B.; Korshunov, A.; Hovestadt, V.; Kommoss, F. K. F.; Kriegsmann, M.; Schick, M.; Bewerunge-Hudler, M.; Milde, T.; Witt, O.; Kulozik, A. E.; Kool, M.; Romero-Pérez, L.; Grünewald, T. G. P.; Kirchner, T.; Wick, W.; Platten, M.; Unterberg, A.; Uhl, M.; Abdollahi, A.; Debus, J.; Lehner, B.; Thomas, C.; Hasselblatt, M.; Paulus, W.; Hartmann, C.; Staszewski, O.; Prinz, M.; Hench, J.; Frank, S.; Versleijen-Jonkers, Y. M. H.; Weidema, M. E.; Mentzel, T.; Griewank, K.; de Álava, E.; Martín, J. D.; Gastearena, M. A. I.; Chang, K. T. E.; Low, S. Y. Y.; Cuevas-Bourdier, A.; Mittelbronn, M.; Mynarek, M.; Rutkowski, S.; Schüller, U.; Mautner, V. F.; Schittenhelm, J.; Serrano, J.; Snuderl, M.; Büttner, R.; Klingebiel, T.; Buslei, R.; Gessler, M.; Wesseling, P.; Dinjens, W. N. M.; Brandner, S.; Jaunmuktane, Z.; Lyskjær, I.; Schirmacher, P.; Stenzinger, A.; Brors, B.; Glimm, H.; Heining, C.; Tirado, O. M.; Sáinz-Jaspeado, M.; Mora, J.; Alonso, J.; del Muro, X. G.; Moran, S.; Esteller, M.; Benhamida, J. K.; Ladanyi, M.; Wardelmann, E.; Antonescu, C.; Flanagan, A.; Dirksen, U.; Hohenberger, P.; Baumhoer, D.; Hartmann, W.; Vokuhl, C.; Flucke, U.; Petersen, I.; Mechtersheimer, G.; Capper, D.; Jones, D. T. W.; Fröhling, S.; Pfister, S. M.; von Deimling, A. |
| Article Title: | Sarcoma classification by DNA methylation profiling |
| Abstract: | Sarcomas are malignant soft tissue and bone tumours affecting adults, adolescents and children. They represent a morphologically heterogeneous class of tumours and some entities lack defining histopathological features. Therefore, the diagnosis of sarcomas is burdened with a high inter-observer variability and misclassification rate. Here, we demonstrate classification of soft tissue and bone tumours using a machine learning classifier algorithm based on array-generated DNA methylation data. This sarcoma classifier is trained using a dataset of 1077 methylation profiles from comprehensively pre-characterized cases comprising 62 tumour methylation classes constituting a broad range of soft tissue and bone sarcoma subtypes across the entire age spectrum. The performance is validated in a cohort of 428 sarcomatous tumours, of which 322 cases were classified by the sarcoma classifier. Our results demonstrate the potential of the DNA methylation-based sarcoma classification for research and future diagnostic applications. © 2021, The Author(s). |
| Keywords: | methylation; histopathology; dna; bone; tumor; detection method; cancer |
| Journal Title: | Nature Communications |
| Volume: | 12 |
| ISSN: | 2041-1723 |
| Publisher: | Nature Publishing Group |
| Date Published: | 2021-01-21 |
| Start Page: | 498 |
| Language: | English |
| DOI: | 10.1038/s41467-020-20603-4 |
| PUBMED: | 33479225 |
| PROVIDER: | scopus |
| PMCID: | PMC7819999 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 1 March 2021 -- Source: Scopus |
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