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037 _ _ |a DKFZ-2021-00179
041 _ _ |a eng
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100 1 _ |a Koelsche, Christian
|0 0000-0001-8763-8864
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245 _ _ |a Sarcoma classification by DNA methylation profiling.
260 _ _ |a [London]
|c 2021
|b Nature Publishing Group UK
336 7 _ |a article
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520 _ _ |a 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.
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