RT Journal Article T1 Sarcoma classification by DNA methylation profiling. A1 Koelsche, Christian A1 Schrimpf, Daniel A1 Stichel, Damian A1 Sill, Martin A1 Sahm, Felix A1 Reuss, David E A1 Blattner, Mirjam A1 Worst, Barbara A1 Heilig, Christoph E A1 Beck, Katja A1 Horak, Peter A1 Kreutzfeldt, Simon A1 Paff, Elke A1 Stark, Sebastian A1 Johann, Pascal A1 Selt, Florian A1 Ecker, Jonas A1 Sturm, Dominik A1 Pajtler, Kristian W A1 Reinhardt, Annekathrin A1 Wefers, Annika K A1 Sievers, Philipp A1 Ebrahimi, Azadeh A1 Suwala, Abigail A1 Fernandez-Klett, Francisco A1 Casalini, Belen A1 Korshunov, Andrey A1 Hovestadt, Volker A1 Kommoss, Felix K F A1 Kriegsmann, Mark A1 Schick, Matthias A1 Bewerunge-Hudler, Melanie A1 Milde, Till A1 Witt, Olaf A1 Kulozik, Andreas E A1 Kool, Marcel A1 Romero-Perez, Laura A1 Grünewald, Thomas G P A1 Kirchner, Thomas A1 Wick, Wolfgang A1 Platten, Michael A1 Unterberg, Andreas A1 Uhl, Matthias A1 Abdollahi, Amir A1 Debus, Jürgen A1 Lehner, Burkhard A1 Thomas, Christian A1 Hasselblatt, Martin A1 Paulus, Werner A1 Hartmann, Christian A1 Staszewski, Ori A1 Prinz, Marco A1 Hench, Jürgen A1 Frank, Stephan A1 Versleijen-Jonkers, Yvonne M H A1 Weidema, Marije E A1 Mentzel, Thomas A1 Griewank, Klaus A1 de Alava, Enrique A1 Martin, Juan Diaz A1 Gastearena, Miguel A Idoate A1 Chang, Kenneth Tou-En A1 Low, Sharon Yin Yee A1 Cuevas-Bourdier, Adrian A1 Mittelbronn, Michel A1 Mynarek, Martin A1 Rutkowski, Stefan A1 Schüller, Ulrich A1 Mautner, Viktor F A1 Schittenhelm, Jens A1 Serrano, Jonathan A1 Snuderl, Matija A1 Büttner, Reinhard A1 Klingebiel, Thomas A1 Buslei, Rolf A1 Gessler, Manfred A1 Wesseling, Pieter A1 Dinjens, Winand N M A1 Brandner, Sebastian A1 Jaunmuktane, Zane A1 Lyskjær, Iben A1 Schirmacher, Peter A1 Stenzinger, Albrecht A1 Brors, Benedikt A1 Glimm, Hanno A1 Heining, Christoph A1 Tirado, Oscar M A1 Sainz-Jaspeado, Miguel A1 Mora, Jaume A1 Alonso, Javier A1 Del Muro, Xavier Garcia A1 Moran, Sebastian A1 Esteller, Manel A1 Benhamida, Jamal K A1 Ladanyi, Marc A1 Wardelmann, Eva A1 Antonescu, Cristina A1 Flanagan, Adrienne A1 Dirksen, Uta A1 Hohenberger, Peter A1 Baumhoer, Daniel A1 Hartmann, Wolfgang A1 Vokuhl, Christian A1 Flucke, Uta A1 Petersen, Iver A1 Mechtersheimer, Gunhild A1 Capper, David A1 Jones, David T W A1 Fröhling, Stefan A1 Pfister, Stefan M A1 von Deimling, Andreas K1 Bone Neoplasms K1 Reproducibility of Results K1 Sensitivity and Specificity K1 Soft Tissue Neoplasms AB 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. PB Nature Publishing Group YR 2021 FD 2021-01-21 LK http://hdl.handle.net/10668/17019 UL http://hdl.handle.net/10668/17019 LA en NO Koelsche C, Schrimpf D, Stichel D, Sill M, Sahm F, Reuss DE, et al. Sarcoma classification by DNA methylation profiling. Nat Commun. 2021 Jan 21;12(1):498 NO This work was funded by Deutsche Krebshilfe grant 70112499, the NCT Heidelberg and an Illumina Medical Research Grant. Part of this work was funded by the National Institute of Health Research (to S.B. and Z.J.) and to UCLH Biomedical research centre (BRC399/NS/RB/101410). Human tissues were obtained from University College London NHS Foundation Trust as part of the UK Brain Archive Information Network (BRAIN UK, Ref: 18/004) which is funded by the Medical Research Council and Brain Tumour Research UK. The methylation profiling at NYU is supported by a grant from the Friedberg Charitable Foundation (to M.Sn.). M.Mi. would like to thank the Luxembourg National Research Fond (FNR) for the support (FNR PEARL P16/BM/11192868 grant). DS RISalud RD Apr 16, 2025