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Sarcoma classification by DNA methylation profiling
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Iben Lyskjær Heimann
Sarcoma classification by DNA methylation profiling
Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
DOI
- https://doi.org/10.1038/s41467-020-20603-4
Final published version
- Christian Koelsche, Heidelberg University , German Cancer Research Center ,
- Daniel Schrimpf, Heidelberg University , German Cancer Research Center ,
- Damian Stichel, German Cancer Research Center ,
- Martin Sill, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center ,
- Felix Sahm, Heidelberg University , German Cancer Research Center ,
- David E Reuss, Heidelberg University , German Cancer Research Center ,
- Mirjam Blattner, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center ,
- Barbara Worst, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center, Heidelberg University ,
- Christoph E Heilig, Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. ,
- Katja Beck, Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. ,
- Peter Horak, Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. ,
- Simon Kreutzfeldt, Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. ,
- Elke Paff, Hopp Children’s Cancer Center Heidelberg (KiTZ), Heidelberg University , German Cancer Research Center ,
- Sebastian Stark, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center, Heidelberg University ,
- Pascal Johann, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center, Heidelberg University ,
- Florian Selt, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center, Heidelberg University ,
- Jonas Ecker, Hopp Children’s Cancer Center Heidelberg (KiTZ), Heidelberg University , German Cancer Research Center ,
- Dominik Sturm, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center, Heidelberg University ,
- Kristian W Pajtler, Hopp Children’s Cancer Center Heidelberg (KiTZ), Heidelberg University , German Cancer Research Center ,
- Annekathrin Reinhardt, Heidelberg University , German Cancer Research Center ,
- Annika K Wefers, Heidelberg University , German Cancer Research Center ,
- Philipp Sievers, Heidelberg University , German Cancer Research Center ,
- Azadeh Ebrahimi, German Cancer Research Center ,
- Abigail Suwala, Heidelberg University , German Cancer Research Center ,
- Francisco Fernández-Klett, Heidelberg University , German Cancer Research Center ,
- Belén Casalini, German Cancer Research Center ,
- Andrey Korshunov, Heidelberg University , German Cancer Research Center ,
- Volker Hovestadt, Broad Institute ,
- Felix K F Kommoss, Heidelberg University ,
- Mark Kriegsmann, Heidelberg University ,
- Matthias Schick, German Cancer Research Center ,
- Melanie Bewerunge-Hudler, German Cancer Research Center ,
- Till Milde, Hopp Children’s Cancer Center Heidelberg (KiTZ), Heidelberg University , German Cancer Research Center ,
- Olaf Witt, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center, Heidelberg University ,
- Andreas E Kulozik, Hopp Children’s Cancer Center Heidelberg (KiTZ), Heidelberg University ,
- Marcel Kool, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center ,
- Laura Romero-Pérez, Ludwig Maximilian University of Munich ,
- Thomas G P Grünewald, Ludwig Maximilian University of Munich ,
- Thomas Kirchner, Ludwig Maximilian University of Munich ,
- Wolfgang Wick, Heidelberg University , German Cancer Research Center ,
- Michael Platten, Heidelberg University , German Cancer Research Center ,
- Andreas Unterberg, Heidelberg University ,
- Matthias Uhl, Heidelberg University ,
- Amir Abdollahi, Heidelberg University , German Cancer Research Center ,
- Jürgen Debus, Heidelberg University , German Cancer Research Center ,
- Burkhard Lehner, Heidelberg University ,
- Christian Thomas, University of Münster ,
- Martin Hasselblatt, University of Münster ,
- Werner Paulus, University of Münster ,
- Christian Hartmann, Laboratory of Molecular Pathology, Institute of Pathology, Locarno, Switzerland., Hannover Medical School ,
- Ori Staszewski, University of Freiburg ,
- Marco Prinz, University of Freiburg ,
- Jürgen Hench, University of Basel ,
- Stephan Frank, University of Basel ,
- Yvonne M H Versleijen-Jonkers, Radboud University Nijmegen ,
- Marije E Weidema, Radboud University Nijmegen ,
- Thomas Mentzel, Dermatopathology Bodensee ,
- Klaus Griewank, University of Duisburg-Essen ,
- Enrique de Álava, University of Seville ,
- Juan Díaz Martín, University of Seville ,
- Miguel A Idoate Gastearena, University of Navarra ,
- Kenneth Tou-En Chang, KK Women's and Children's Hospital ,
- Sharon Yin Yee Low, Department of Psychology and Neuroscience Institute of Turin, University of Turin & National Institute Neuroscience, Turin ,
- Adrian Cuevas-Bourdier, National Center of Pathology (NCP) ,
- Michel Mittelbronn, National Center of Pathology (NCP), University of Luxembourg ,
- Martin Mynarek, University of Hamburg ,
- Stefan Rutkowski, University of Hamburg ,
- Ulrich Schüller, University of Hamburg ,
- Viktor F Mautner, University of Hamburg ,
- Jens Schittenhelm, University of Tübingen ,
- Jonathan Serrano, New York University ,
- Matija Snuderl, New York University ,
- Reinhard Büttner, University of Cologne ,
- Thomas Klingebiel, University of Tartu ,
- Rolf Buslei, Sozialstiftung Bamberg ,
- Manfred Gessler, University of Würzburg ,
- Pieter Wesseling, Princess Máxima Center for Pediatric Oncology, Amsterdam UMC ,
- Winand N M Dinjens, Erasmus MC Cancer Institute ,
- Sebastian Brandner, University College London ,
- Zane Jaunmuktane, University College London ,
- Iben Lyskjær
- Peter Schirmacher, Heidelberg University ,
- Albrecht Stenzinger, Heidelberg University ,
- Benedikt Brors, German Cancer Research Center ,
- Hanno Glimm, Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. ,
- Christoph Heining, German Cancer Research Center (DKFZ), Heidelberg and German Cancer Consortium (DKTK), Dresden, Germany; National Center for Tumor Diseases (NCT), Partner Site Dresden, Germany; Medical Systems Biology, University Cancer Center (UCC), University Hospital Carl Gustav Carus, Technische Universität Dresden, Germany. ,
- Oscar M Tirado, Bellvitge Biomedical Research Institute (IDIBELL), Department of Pathology, Bellvitge University Hospital, L'Hospitalet, Barcelona, 08908 Catalonia, Spain. ,
- Miguel Sáinz-Jaspeado, Bellvitge Biomedical Research Institute (IDIBELL), Department of Pathology, Bellvitge University Hospital, L'Hospitalet, Barcelona, 08908 Catalonia, Spain. ,
- Jaume Mora, Hospital Sant Joan de Deu, Barcelona, Spain. ,
- Javier Alonso, Institute of Rare Diseases Research (Instituto de Investigación de Enfermedades Raras/IIER), & Consortium for Biomedical Research in Rare Diseases (Centro de Investigación Biomédica en Red de Enfermedades Raras/CIBERER), Carlos III Institute of Health (Instituto de Salud Carlos III), 28029, Madrid, Spain. ,
- Xavier Garcia Del Muro, Liver Unit, Hospital Clínic de Barcelona, University de Barcelona, Barcelona, Spain; University of Barcelona, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; Centro d'Investigación Biomédica en Red Enfermedades Hepáticas y Digestivas (CIBEReHD), Barcelona, Spain. ,
- Sebastian Moran, Bellvitge Biomedical Research Institute (IDIBELL), Department of Pathology, Bellvitge University Hospital, L'Hospitalet, Barcelona, 08908 Catalonia, Spain. ,
- Manel Esteller, Josep Carreras Leukaemia Research Institute (IJC) ,
- Jamal K Benhamida, Memorial Sloan-Kettering Cancer Center ,
- Marc Ladanyi, Memorial Sloan-Kettering Cancer Center ,
- Eva Wardelmann, University of Münster ,
- Cristina Antonescu, Memorial Sloan-Kettering Cancer Center ,
- Adrienne Flanagan, Royal National Orthopaedic Hospital NHS Trust ,
- Uta Dirksen, University of Duisburg-Essen ,
- Peter Hohenberger, Heidelberg University ,
- Daniel Baumhoer, University of Basel ,
- Wolfgang Hartmann, University of Münster ,
- Christian Vokuhl, University Medical Centre Schleswig-Holstein ,
- Uta Flucke, Radboud University Nijmegen ,
- Iver Petersen, Laboratory of Molecular Pathology, Institute of Pathology, Locarno, Switzerland. ,
- Gunhild Mechtersheimer, Heidelberg University ,
- David Capper, Department of Neuropathology, Charité University Medicine, Berlin, Germany; Department of Neuropathology, University of Alberta, Edmonton, Canada. ,
- David T W Jones, Hopp Children’s Cancer Center Heidelberg (KiTZ) ,
- Stefan Fröhling, Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. ,
- Stefan M Pfister, Hopp Children’s Cancer Center Heidelberg (KiTZ) ,
- Andreas von Deimling, Heidelberg University
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.
| Original language | English |
|---|---|
| Article number | 498 |
| Journal | Nature Communications |
| Volume | 12 |
| Issue | 1 |
| ISSN | 2041-1723 |
| DOIs | |
| Publication status | Published - Jan 2021 |
| Externally published | Yes |
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ID: 209004086