Sarcoma classification by DNA methylation profiling
| Title: | Sarcoma classification by DNA methylation profiling |
|---|---|
| Authors: | Koelsche, Christian; Schrimpf, Daniel; Stichel, Damian; Sill, Martin; Sahm, Felix; Reuss, David E.; Blattner, Mirjam; Worst, Barbara; Heilig, Christoph E.; Beck, Katja; Horak, Peter; Kreutzfeldt, Simon; Paff, Elke; Stark, Sebastian; Johann, Pascal; Selt, Florian; Ecker, Jonas; Sturm, Dominik; Pajtler, Kristian W.; Reinhardt, Annekathrin; Wefers, Annika K.; Sievers, Philipp; Ebrahimi, Azadeh; Suwala, Abigail; Fernández-Klett, Francisco; Casalini, Belén; Korshunov, Andrey; Hovestadt, Volker; Kommoss, Felix K. F.; Kriegsmann, Mark; Schick, Matthias; Bewerunge-Hudler, Melanie; Milde, Till; Witt, Olaf; Kulozik, Andreas E.; Kool, Marcel; Romero-Pérez, Laura; Grünewald, Thomas G. P.; Kirchner, Thomas; Wick, Wolfgang; Platten, Michael; Unterberg, Andreas; Uhl, Matthias; Abdollahi, Amir; Debus, J. rgen; Lehner, Burkhard; Thomas, Christian; Hasselblatt, Martin; Paulus, Werner; Hartmann, Christian; Staszewski, Ori; Prinz, Marco; Hench, J. rgen; Frank, Stephan; Versleijen-Jonkers, Yvonne M. H.; Weidema, Marije E.; Mentzel, Thomas; Griewank, Klaus; de Álava, Enrique; Martín, Juan D. az; Gastearena, Miguel A. Idoate; Chang, Kenneth Tou-En; Low, Sharon Yin Yee; Cuevas-Bourdier, Adrian; Mittelbronn, Michel; Mynarek, Martin; Rutkowski, Stefan; Schüller, Ulrich; Mautner, Viktor F.; Schittenhelm, Jens; Serrano, Jonathan; Snuderl, Matija; Büttner, Reinhard; Klingebiel, Thomas; Buslei, Rolf; Gessler, Manfred; Wesseling, Pieter; Dinjens, Winand N. M.; Brandner, Sebastian; Jaunmuktane, Zane; Lyskjær, Iben; Schirmacher, Peter; Stenzinger, Albrecht; Brors, Benedikt; Glimm, Hanno; Heining, Christoph; Tirado, Oscar M.; Sáinz-Jaspeado, Miguel; Mora, Jaume; Alonso, Javier; del Muro, Xavier Garcia; Moran, Sebastian; Esteller, Manel; Benhamida, Jamal K.; Ladanyi, Marc; Wardelmann, Eva; Antonescu, Cristina; Flanagan, Adrienne; Dirksen, Uta; Hohenberger, Peter; Baumhoer, Daniel; Hartmann, Wolfgang; Vokuhl, Christian; Flucke, Uta; Petersen, Iver; Mechtersheimer, Gunhild; Capper, David; Jones, David T. W.; Fröhling, Stefan; Pfister, Stefan M.; von Deimling, Andreas |
| Source: | 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 .... |
| Publication Year: | 2021 |
| Description: | 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. |
| Document Type: | article in journal/newspaper |
| Language: | English |
| ISSN: | 2041-1723 |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/33479225; info:eu-repo/semantics/altIdentifier/eissn/2041-1723 |
| DOI: | 10.1038/s41467-020-20603-4 |
| Availability: | https://research.vumc.nl/en/publications/bac7484a-85e8-4f05-bf9d-25417a968a7a; https://doi.org/10.1038/s41467-020-20603-4; https://www.scopus.com/pages/publications/85099975144 |
| Rights: | info:eu-repo/semantics/openAccess |
| Accession Number: | edsbas.E4A16379 |
| Database: | BASE |