Sarcoma classification by DNA methylation profiling
Publikation: Beitrag in Fachzeitschrift › Forschungsartikel › Beigetragen › Begutachtung
Beitragende
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
| Originalsprache | Englisch |
|---|---|
| Aufsatznummer | 498 |
| Fachzeitschrift | Nature communications |
| Jahrgang | 12 |
| Ausgabenummer | 1 |
| Publikationsstatus | Veröffentlicht - 1 Dez. 2021 |
| Peer-Review-Status | Ja |
Externe IDs
| PubMed | 33479225 |
|---|---|
| ORCID | /0009-0003-2782-8190/work/198593771 |