Koelsche, ChristianSchrimpf, DanielStichel, DamianSill, MartinSahm, FelixReuss, David EBlattner, MirjamWorst, BarbaraHeilig, Christoph EBeck, KatjaHorak, PeterKreutzfeldt, SimonPaff, ElkeStark, SebastianJohann, PascalSelt, FlorianEcker, JonasSturm, DominikPajtler, Kristian WReinhardt, AnnekathrinWefers, Annika KSievers, PhilippEbrahimi, AzadehSuwala, AbigailFernandez-Klett, FranciscoCasalini, BelenKorshunov, AndreyHovestadt, VolkerKommoss, Felix K FKriegsmann, MarkSchick, MatthiasBewerunge-Hudler, MelanieMilde, TillWitt, OlafKulozik, Andreas EKool, MarcelRomero-Perez, LauraGrünewald, Thomas G PKirchner, ThomasWick, WolfgangPlatten, MichaelUnterberg, AndreasUhl, MatthiasAbdollahi, AmirDebus, JürgenLehner, BurkhardThomas, ChristianHasselblatt, MartinPaulus, WernerHartmann, ChristianStaszewski, OriPrinz, MarcoHench, JürgenFrank, StephanVersleijen-Jonkers, Yvonne M HWeidema, Marije EMentzel, ThomasGriewank, Klausde Alava, EnriqueMartin, Juan DiazGastearena, Miguel A IdoateChang, Kenneth Tou-EnLow, Sharon Yin YeeCuevas-Bourdier, AdrianMittelbronn, MichelMynarek, MartinRutkowski, StefanSchüller, UlrichMautner, Viktor FSchittenhelm, JensSerrano, JonathanSnuderl, MatijaBüttner, ReinhardKlingebiel, ThomasBuslei, RolfGessler, ManfredWesseling, PieterDinjens, Winand N MBrandner, SebastianJaunmuktane, ZaneLyskjær, IbenSchirmacher, PeterStenzinger, AlbrechtBrors, BenediktGlimm, HannoHeining, ChristophTirado, Oscar MSainz-Jaspeado, MiguelMora, JaumeAlonso, JavierDel Muro, Xavier GarciaMoran, SebastianEsteller, ManelBenhamida, Jamal KLadanyi, MarcWardelmann, EvaAntonescu, CristinaFlanagan, AdrienneDirksen, UtaHohenberger, PeterBaumhoer, DanielHartmann, WolfgangVokuhl, ChristianFlucke, UtaPetersen, IverMechtersheimer, GunhildCapper, DavidJones, David T WFröhling, StefanPfister, Stefan Mvon Deimling, Andreas2023-02-092023-02-092021-01-21Koelsche 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):498http://hdl.handle.net/10668/17019Sarcomas 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.enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/Bone NeoplasmsReproducibility of ResultsSensitivity and SpecificitySoft Tissue NeoplasmsAlgorithmsCohort StudiesDNA Copy Number VariationsDNA MethylationHumansInternetMachine LearningSarcomaresearch article33479225open accessSarcomaMetilación de ADNMetilaciónDiagnósticoPredicciónAlgoritmosHuesosTejidos10.1038/s41467-020-20603-42041-1723PMC7819999https://www.nature.com/articles/s41467-020-20603-4.pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819999/pdf