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Sarcoma classification by DNA methylation profiling.

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dc.contributor.authorKoelsche, Christian
dc.contributor.authorSchrimpf, Daniel
dc.contributor.authorStichel, Damian
dc.contributor.authorSill, Martin
dc.contributor.authorSahm, Felix
dc.contributor.authorReuss, David E
dc.contributor.authorBlattner, Mirjam
dc.contributor.authorWorst, Barbara
dc.contributor.authorHeilig, Christoph E
dc.contributor.authorBeck, Katja
dc.contributor.authorHorak, Peter
dc.contributor.authorKreutzfeldt, Simon
dc.contributor.authorPaff, Elke
dc.contributor.authorStark, Sebastian
dc.contributor.authorJohann, Pascal
dc.contributor.authorSelt, Florian
dc.contributor.authorEcker, Jonas
dc.contributor.authorSturm, Dominik
dc.contributor.authorPajtler, Kristian W
dc.contributor.authorReinhardt, Annekathrin
dc.contributor.authorWefers, Annika K
dc.contributor.authorSievers, Philipp
dc.contributor.authorEbrahimi, Azadeh
dc.contributor.authorSuwala, Abigail
dc.contributor.authorFernandez-Klett, Francisco
dc.contributor.authorCasalini, Belen
dc.contributor.authorKorshunov, Andrey
dc.contributor.authorHovestadt, Volker
dc.contributor.authorKommoss, Felix K F
dc.contributor.authorKriegsmann, Mark
dc.contributor.authorSchick, Matthias
dc.contributor.authorBewerunge-Hudler, Melanie
dc.contributor.authorMilde, Till
dc.contributor.authorWitt, Olaf
dc.contributor.authorKulozik, Andreas E
dc.contributor.authorKool, Marcel
dc.contributor.authorRomero-Perez, Laura
dc.contributor.authorGrünewald, Thomas G P
dc.contributor.authorKirchner, Thomas
dc.contributor.authorWick, Wolfgang
dc.contributor.authorPlatten, Michael
dc.contributor.authorUnterberg, Andreas
dc.contributor.authorUhl, Matthias
dc.contributor.authorAbdollahi, Amir
dc.contributor.authorDebus, Jürgen
dc.contributor.authorLehner, Burkhard
dc.contributor.authorThomas, Christian
dc.contributor.authorHasselblatt, Martin
dc.contributor.authorPaulus, Werner
dc.contributor.authorHartmann, Christian
dc.contributor.authorStaszewski, Ori
dc.contributor.authorPrinz, Marco
dc.contributor.authorHench, Jürgen
dc.contributor.authorFrank, Stephan
dc.contributor.authorVersleijen-Jonkers, Yvonne M H
dc.contributor.authorWeidema, Marije E
dc.contributor.authorMentzel, Thomas
dc.contributor.authorGriewank, Klaus
dc.contributor.authorde Alava, Enrique
dc.contributor.authorMartin, Juan Diaz
dc.contributor.authorGastearena, Miguel A Idoate
dc.contributor.authorChang, Kenneth Tou-En
dc.contributor.authorLow, Sharon Yin Yee
dc.contributor.authorCuevas-Bourdier, Adrian
dc.contributor.authorMittelbronn, Michel
dc.contributor.authorMynarek, Martin
dc.contributor.authorRutkowski, Stefan
dc.contributor.authorSchüller, Ulrich
dc.contributor.authorMautner, Viktor F
dc.contributor.authorSchittenhelm, Jens
dc.contributor.authorSerrano, Jonathan
dc.contributor.authorSnuderl, Matija
dc.contributor.authorBüttner, Reinhard
dc.contributor.authorKlingebiel, Thomas
dc.contributor.authorBuslei, Rolf
dc.contributor.authorGessler, Manfred
dc.contributor.authorWesseling, Pieter
dc.contributor.authorDinjens, Winand N M
dc.contributor.authorBrandner, Sebastian
dc.contributor.authorJaunmuktane, Zane
dc.contributor.authorLyskjær, Iben
dc.contributor.authorSchirmacher, Peter
dc.contributor.authorStenzinger, Albrecht
dc.contributor.authorBrors, Benedikt
dc.contributor.authorGlimm, Hanno
dc.contributor.authorHeining, Christoph
dc.contributor.authorTirado, Oscar M
dc.contributor.authorSainz-Jaspeado, Miguel
dc.contributor.authorMora, Jaume
dc.contributor.authorAlonso, Javier
dc.contributor.authorDel Muro, Xavier Garcia
dc.contributor.authorMoran, Sebastian
dc.contributor.authorEsteller, Manel
dc.contributor.authorBenhamida, Jamal K
dc.contributor.authorLadanyi, Marc
dc.contributor.authorWardelmann, Eva
dc.contributor.authorAntonescu, Cristina
dc.contributor.authorFlanagan, Adrienne
dc.contributor.authorDirksen, Uta
dc.contributor.authorHohenberger, Peter
dc.contributor.authorBaumhoer, Daniel
dc.contributor.authorHartmann, Wolfgang
dc.contributor.authorVokuhl, Christian
dc.contributor.authorFlucke, Uta
dc.contributor.authorPetersen, Iver
dc.contributor.authorMechtersheimer, Gunhild
dc.contributor.authorCapper, David
dc.contributor.authorJones, David T W
dc.contributor.authorFröhling, Stefan
dc.contributor.authorPfister, Stefan M
dc.contributor.authorvon Deimling, Andreas
dc.contributor.funderDeutsche Krebshilfe
dc.contributor.funderMedical Research Council and Brain Tumour Research UK
dc.contributor.funderFriedberg Charitable Foundation
dc.contributor.funderLuxembourg National Research Fond (FNR)
dc.date.accessioned2023-02-09T10:40:09Z
dc.date.available2023-02-09T10:40:09Z
dc.date.issued2021-01-21
dc.description.abstractSarcomas 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.
dc.description.sponsorshipThis 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).
dc.description.versionSi
dc.identifier.citationKoelsche 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
dc.identifier.doi10.1038/s41467-020-20603-4
dc.identifier.essn2041-1723
dc.identifier.pmcPMC7819999
dc.identifier.pmid33479225
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819999/pdf
dc.identifier.unpaywallURLhttps://www.nature.com/articles/s41467-020-20603-4.pdf
dc.identifier.urihttp://hdl.handle.net/10668/17019
dc.issue.number1
dc.journal.titleNature communications
dc.journal.titleabbreviationNat Commun
dc.language.isoen
dc.organizationInstituto de Biomedicina de Sevilla-IBIS
dc.organizationHospital Universitario Virgen del Rocío
dc.page.number10
dc.provenanceRealizada la curación de contenido 14/02/2025
dc.publisherNature Publishing Group
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.relation.projectIDFNR PEARL P16/BM/11192868
dc.relation.projectID70112499
dc.relation.projectIDBRC399/NS/RB/101410
dc.relation.projectID18/004
dc.relation.publisherversionhttps://pmc.ncbi.nlm.nih.gov/articles/pmid/33479225/
dc.rightsAttribution 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectBone Neoplasms
dc.subjectReproducibility of Results
dc.subjectSensitivity and Specificity
dc.subjectSoft Tissue Neoplasms
dc.subject.decsSarcoma
dc.subject.decsMetilación de ADN
dc.subject.decsMetilación
dc.subject.decsDiagnóstico
dc.subject.decsPredicción
dc.subject.decsAlgoritmos
dc.subject.decsHuesos
dc.subject.decsTejidos
dc.subject.meshAlgorithms
dc.subject.meshCohort Studies
dc.subject.meshDNA Copy Number Variations
dc.subject.meshDNA Methylation
dc.subject.meshHumans
dc.subject.meshInternet
dc.subject.meshMachine Learning
dc.subject.meshSarcoma
dc.titleSarcoma classification by DNA methylation profiling.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number12
dspace.entity.typePublication

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