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Sarcoma classification by DNA methylation profiling.

In Nature communications ; h5-index 260.0

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.

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

2021-01-21