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Sarcoma classification by DNA methylation profiling
- Source :
- Koelsche , C , Schrimpf , D , Stichel , D , Sill , M , Sahm , F , Reuss , DE , Blattner , M , Worst , B , Heilig , CE , Beck , K , Horak , P , Kreutzfeldt , S , Paff , E , Stark , S , Johann , P , Selt , F , Ecker , J , Sturm , D , Pajtler , K W , Reinhardt , A , Wefers , AK , Sievers , P , Ebrahimi , A , Suwala , A , Fernandez-Klett , F , Casalini , B , Korshunov , A , Hovestadt , V , Kommoss , FKF , Kriegsmann , M , Schick , M , Bewerunge-Hudler , M , Milde , T , Witt , O , Kulozik , AE , Kool , M , Romero-Perez , L , Grunewald , TGP , Kirchner , T , Wick , W , Platten , M , Unterberg , A , Uhl , M , Abdollahi , A , Debus , J , Lehner , B , Thomas , C , Hasselblatt , M , Paulus , W , Hartmann , C , Staszewski , O , Prinz , M , Hench , J , Frank , S , Versleijen-Jonkers , YMH , Weidema , ME , Mentzel , T , Griewank , K , Alava , E , Martin , JD , Gastearena , MAI , Chang , KTE , Low , SYY , Cuevas-Bourdier , A , Mittelbronn , M , Mynarek , M , Rutkowski , S , Schuller , U , Mautner , VF , Schittenhelm , J , Serrano , J , Snuderl , M , Buttner , R , Klingebiel , T , Buslei , R , Gessler , M , Wesseling , P , Dinjens , W , Brandner , S , Jaunmuktane , Z , Lyskjaer , I , Schirmacher , P , Stenzinger , A , Brors , B , Glimm , H , Heining , C , Tirado , OM , Sainz-Jaspeado , M , Mora , J , Alonso , J , del Muro , XG , Moran , S , Esteller , M , Benhamida , JK , Ladanyi , M , Wardelmann , E , Antonescu , C , Flanagan , A , Dirksen , U , Hohenberger , P , Baumhoer , D , Hartmann , W , Vokuhl , C , Flucke , U , Petersen , I , Mechtersheimer , G , Capper , D , Jones , DT , Frohling , S , Pfister , SM & von Deimling , A 2021 , ' Sarcoma classification by DNA methylation profiling ' , Nature Communications , vol. 12 , no. 1 , 498 .
- Publication Year :
- 2021
-
Abstract
- 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.
Details
- Database :
- OAIster
- Journal :
- Koelsche , C , Schrimpf , D , Stichel , D , Sill , M , Sahm , F , Reuss , DE , Blattner , M , Worst , B , Heilig , CE , Beck , K , Horak , P , Kreutzfeldt , S , Paff , E , Stark , S , Johann , P , Selt , F , Ecker , J , Sturm , D , Pajtler , K W , Reinhardt , A , Wefers , AK , Sievers , P , Ebrahimi , A , Suwala , A , Fernandez-Klett , F , Casalini , B , Korshunov , A , Hovestadt , V , Kommoss , FKF , Kriegsmann , M , Schick , M , Bewerunge-Hudler , M , Milde , T , Witt , O , Kulozik , AE , Kool , M , Romero-Perez , L , Grunewald , TGP , Kirchner , T , Wick , W , Platten , M , Unterberg , A , Uhl , M , Abdollahi , A , Debus , J , Lehner , B , Thomas , C , Hasselblatt , M , Paulus , W , Hartmann , C , Staszewski , O , Prinz , M , Hench , J , Frank , S , Versleijen-Jonkers , YMH , Weidema , ME , Mentzel , T , Griewank , K , Alava , E , Martin , JD , Gastearena , MAI , Chang , KTE , Low , SYY , Cuevas-Bourdier , A , Mittelbronn , M , Mynarek , M , Rutkowski , S , Schuller , U , Mautner , VF , Schittenhelm , J , Serrano , J , Snuderl , M , Buttner , R , Klingebiel , T , Buslei , R , Gessler , M , Wesseling , P , Dinjens , W , Brandner , S , Jaunmuktane , Z , Lyskjaer , I , Schirmacher , P , Stenzinger , A , Brors , B , Glimm , H , Heining , C , Tirado , OM , Sainz-Jaspeado , M , Mora , J , Alonso , J , del Muro , XG , Moran , S , Esteller , M , Benhamida , JK , Ladanyi , M , Wardelmann , E , Antonescu , C , Flanagan , A , Dirksen , U , Hohenberger , P , Baumhoer , D , Hartmann , W , Vokuhl , C , Flucke , U , Petersen , I , Mechtersheimer , G , Capper , D , Jones , DT , Frohling , S , Pfister , SM & von Deimling , A 2021 , ' Sarcoma classification by DNA methylation profiling ' , Nature Communications , vol. 12 , no. 1 , 498 .
- Notes :
- application/pdf, English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1338020223
- Document Type :
- Electronic Resource