Frontiers in genetics
Cross-lineage anomaly detection of microRNA expression: a framework for deriving exploratory candidate biomarkers in sarcoma
By Dey M, Remiszewski P, Perdas E and 3 others.
Abstract
Introduction
Sarcomas are rare, heterogeneous malignancies of mesenchymal origin whose diagnosis and molecular classification remain challenging. We introduced a oneclass anomaly detection framework to microRNA expression profiles to test whether sarcoma-associated miRNA features are distinguishable from those of epithelial, haematological, and neurological cancers and if these features carry any biological relevance.
Methods
Candidate miRNAs meeting cross-lineage significance criteria were further evaluated through differential expression analysis against subtype-matched normal mesenchymal reference tissue, pathway enrichment, and survival analysis. A five-miRNA index ("Index 5"), derived by Fisher's linear discriminant analysis with leave-one-out cross-validation in a TCGA-SARC training cohort, was applied without refitting to an independent external cohort (GSE36982).