Sarcoma classification by DNA methylation profiling
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Published:2021-01-21
Issue:1
Volume:12
Page:
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ISSN:2041-1723
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Container-title:Nature Communications
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language:en
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Short-container-title:Nat Commun
Author:
Koelsche ChristianORCID, Schrimpf Daniel, Stichel Damian, Sill Martin, Sahm FelixORCID, Reuss David E., Blattner Mirjam, Worst Barbara, Heilig Christoph E., Beck Katja, Horak PeterORCID, Kreutzfeldt SimonORCID, Paff Elke, Stark Sebastian, Johann Pascal, Selt Florian, Ecker Jonas, Sturm DominikORCID, Pajtler Kristian W., Reinhardt Annekathrin, Wefers Annika K., Sievers Philipp, Ebrahimi Azadeh, Suwala Abigail, Fernández-Klett Francisco, Casalini Belén, Korshunov Andrey, Hovestadt VolkerORCID, Kommoss Felix K. F.ORCID, Kriegsmann Mark, Schick Matthias, Bewerunge-Hudler MelanieORCID, Milde Till, Witt Olaf, Kulozik Andreas E.ORCID, Kool Marcel, Romero-Pérez LauraORCID, Grünewald Thomas G. P.ORCID, Kirchner Thomas, Wick WolfgangORCID, Platten MichaelORCID, Unterberg Andreas, Uhl Matthias, Abdollahi Amir, Debus Jürgen, Lehner Burkhard, Thomas ChristianORCID, Hasselblatt MartinORCID, Paulus Werner, Hartmann Christian, Staszewski Ori, Prinz MarcoORCID, Hench Jürgen, Frank StephanORCID, Versleijen-Jonkers Yvonne M. H.ORCID, Weidema Marije E., Mentzel Thomas, Griewank KlausORCID, de Álava Enrique, Martín Juan DíazORCID, Gastearena Miguel A. Idoate, Chang Kenneth Tou-EnORCID, Low Sharon Yin Yee, Cuevas-Bourdier Adrian, Mittelbronn Michel, Mynarek MartinORCID, Rutkowski Stefan, Schüller UlrichORCID, Mautner Viktor F., Schittenhelm JensORCID, Serrano Jonathan, Snuderl Matija, Büttner ReinhardORCID, Klingebiel ThomasORCID, Buslei Rolf, Gessler ManfredORCID, Wesseling Pieter, Dinjens Winand N. M., Brandner SebastianORCID, Jaunmuktane Zane, Lyskjær Iben, Schirmacher Peter, Stenzinger Albrecht, Brors Benedikt, Glimm Hanno, Heining Christoph, Tirado Oscar M., Sáinz-Jaspeado Miguel, Mora Jaume, Alonso JavierORCID, del Muro Xavier GarciaORCID, Moran SebastianORCID, Esteller ManelORCID, Benhamida Jamal K.ORCID, Ladanyi Marc, Wardelmann EvaORCID, Antonescu CristinaORCID, Flanagan AdrienneORCID, Dirksen UtaORCID, Hohenberger PeterORCID, Baumhoer DanielORCID, Hartmann WolfgangORCID, Vokuhl Christian, Flucke Uta, Petersen Iver, Mechtersheimer Gunhild, Capper DavidORCID, Jones David T. W., Fröhling StefanORCID, Pfister Stefan M., von Deimling AndreasORCID
Abstract
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.
Funder
Deutsche Krebshilfe
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
Reference43 articles.
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