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Sarcoma classification by DNA methylation profiling.

Christian Koelsche | Daniel Schrimpf | Damian Stichel | Martin Sill | Felix Sahm | David E Reuss | Mirjam Blattner | Barbara Worst | Christoph E Heilig | Katja Beck | Peter Horak | Simon Kreutzfeldt | Elke Paff | Sebastian Stark | Pascal Johann | Florian Selt | Jonas Ecker | Dominik Sturm | Kristian W Pajtler | Annekathrin Reinhardt | Annika K Wefers | Philipp Sievers | Azadeh Ebrahimi | Abigail Suwala | Francisco Fernández-Klett | Belén Casalini | Andrey Korshunov | Volker Hovestadt | Felix K F Kommoss | Mark Kriegsmann | Matthias Schick | Melanie Bewerunge-Hudler | Till Milde | Olaf Witt | Andreas E Kulozik | Marcel Kool | Laura Romero-Pérez | Thomas G P Grünewald | Thomas Kirchner | Wolfgang Wick | Michael Platten | Andreas Unterberg | Matthias Uhl | Amir Abdollahi | Jürgen Debus | Burkhard Lehner | Christian Thomas | Martin Hasselblatt | Werner Paulus | Christian Hartmann | Ori Staszewski | Marco Prinz | Jürgen Hench | Stephan Frank | Yvonne M H Versleijen-Jonkers | Marije E Weidema | Thomas Mentzel | Klaus Griewank | Enrique de Álava | Juan Díaz Martín | Miguel A Idoate Gastearena | Kenneth Tou-En Chang | Sharon Yin Yee Low | Adrian Cuevas-Bourdier | Michel Mittelbronn | Martin Mynarek | Stefan Rutkowski | Ulrich Schüller | Viktor F Mautner | Jens Schittenhelm | Jonathan Serrano | Matija Snuderl | Reinhard Büttner | Thomas Klingebiel | Rolf Buslei | Manfred Gessler | Pieter Wesseling | Winand N M Dinjens | Sebastian Brandner | Zane Jaunmuktane | Iben Lyskjær | Peter Schirmacher | Albrecht Stenzinger | Benedikt Brors | Hanno Glimm | Christoph Heining | Oscar M Tirado | Miguel Sáinz-Jaspeado | Jaume Mora | Javier Alonso | Xavier Garcia Del Muro | Sebastian Moran | Manel Esteller | Jamal K Benhamida | Marc Ladanyi | Eva Wardelmann | Cristina Antonescu | Adrienne Flanagan | Uta Dirksen | Peter Hohenberger | Daniel Baumhoer | Wolfgang Hartmann | Christian Vokuhl | Uta Flucke | Iver Petersen | Gunhild Mechtersheimer | David Capper | David T W Jones | Stefan Fröhling | Stefan M Pfister | Andreas von Deimling
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.

Pubmed ID: 33479225

Research resources used in this publication

None found

Antibodies used in this publication

None found

Associated grants

  • Agency: NCI NIH HHS, United States
    Id: P30 CA008748
  • Agency: NCI NIH HHS, United States
    Id: P50 CA217694
  • Agency: Medical Research Council, United Kingdom
  • Agency: Department of Health, United Kingdom
    Id: BRC399/NS/RB/101410

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Bioconductor (tool)

RRID:SCR_006442

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LIMMA (tool)

RRID:SCR_010943

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minfi (tool)

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glmnet (tool)

RRID:SCR_015505

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