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Sarcoma classification by DNA methylation profiling.

Christian KölscheDaniel SchrimpfDamian StichelMartin SillFelix SahmDavid E ReussMirjam BlattnerBarbara WorstChristoph E HeiligKatja BeckPeter HorakSimon KreutzfeldtElke PaffSebastian StarkPascal JohannFlorian SeltJonas EckerDominik SturmKristian W PajtlerAnnekathrin ReinhardtAnnika K WefersPhilipp SieversAzadeh EbrahimiAbigail SuwalaFrancisco Fernández-KlettBelén CasaliniAndrey KorshunovVolker HovestadtFelix K F KommossMark KriegsmannMatthias SchickMelanie Bewerunge-HudlerTill MildeOlaf WittAndreas E KulozikMarcel KoolLaura Romero-PérezThomas G P GrünewaldThomas KirchnerWolfgang WickMichael PlattenAndreas UnterbergMatthias UhlAmir AbdollahiJürgen DebusBurkhard LehnerChristian ThomasMartin HasselblattWerner PaulusChristian HartmannOri StaszewskiMarco PrinzJürgen HenchSavas Deniz SoysalYvonne M H Versleijen-JonkersMarije E WeidemaThomas MentzelKlaus Georg GriewankEnrique de ÁlavaJuan Díaz MartínMiguel A Idoate GastearenaKenneth Tou-En ChangSharon Yin Yee LowAdrian Cuevas-BourdierMichel MittelbronnMartin MynarekStefan RutkowskiUlrich SchüllerViktor F MautnerCornelia BrendleJonathan SerranoMatija SnuderlReinhard ButtnerThomas KlingebielRolf BusleiManfred GesslerPieter WesselingWinand N M DinjensSebastian BrandnerZane JaunmuktaneIben LyskjærPeter SchirmacherAlbrecht StenzingerBenedikt BrorsHanno GlimmChristoph HeiningOscar M TiradoMiguel Sáinz-JaspeadoJaume MoraJavier AlonsoXavier García Del Muro SolansSebastian MoranManel EstellerJamal K BenhamidaMarc LadanyiEva WardelmannCristina R AntonescuAdrienne M FlanaganUta DirksenPeter HohenbergerDaniel BaumhoerWolfgang HartmannChristian VokuhlUta FluckeIver PetersenGunhild MechtersheimerDavid CapperDavid T W JonesStefan FröhlingStefan M PfisterAndreas von Deimling
Published in: Nature communications (2021)
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.
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