Sarcoma classification by DNA methylation profiling
Reuss, David E.
Romero Pérez, Laura
Álava Casado, Enrique de
Idoate Gastearena, Miguel Ángel
|Department||Universidad de Sevilla. Departamento de Citología e Histología Normal y Patológica|
|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. ...
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.
|Citation||Koelsche, C., Schrimpf, D., Stichel, D., Sill, M., Sahm, F., Reuss, D.E.,...,Hohenberger, P. (2021). Sarcoma classification by DNA methylation profiling. Nature Communications, 21 (1)|