EGAGenomicsRNASeqhttps://ega-archive.org/studies/EGAS00001003291EGAEGA study EGAS00001003291RNA sequencing of undifferentiated sarcomasEGArestrictedRNA, RNA Sequence Determination, RNA Sequence Analyses, Analyses, Determination, RNA Sequence Determinations, RNA Sequence Analysis, Sequence Determination, RNA Sequence, RNA Sequencing, Analysis, Sequence Determinations, high grade., Sequencing, Determinations, Sequence Analyseshuman being, Malignant Neoplasm, short stature, determination, SOFT, DP, Sequence Determination, Neoplasms, Modern, Benign Neoplasm, number, Gene, Prognostic Factors, Factor, Tumor, Malignant, presence, soft, Determinations, and hypotrichosis, Human, Ploidy, count in organism, MT, Benign, Homo sapiens, DNA Sequencing, chemical analysis, DNA Sequence Determinations, Neoplasm, simple tissue, rare (European definition), PIX2, DNA Sequence, Analysis, WDR51A, Adults, Man, adult, DNA sequencing, primary cancer, Exhibit, Prognoses, Factors, Man (Taxonomy), Gene Expressions, distinct, Malignancy, Analyses, Determination, Prognostic, Tissue, Benign Neoplasms, Cancers, whole genome, Prognostic Factor., Sequence Determinations, Expressions, malignant tumor, high grade, human, Sequencing, DNA Sequence Determination, Malignant Neoplasms, Neoplasias, DNA Sequence Analysis, DNA Sequence Analyses, malignant neoplasm, Modern Man, cardinality, facial dysmorphism, onychodysplasia, Malignancies, assay, Expression, DNA, Neoplasia, humans, Cancer, Tumors, Sequence AnalysesfalseRNA sequencing of undifferentiated sarcomasUndifferentiated sarcomas (USARCs) of adults are diverse, rare, and aggressive soft tissue cancers. Recent sequencing efforts have confirmed that USARCs exhibit one of the highest burdens of structural aberrations across human cancer. Here, we sought to unravel the molecular basis of the structural complexity in USARCs by integrating DNA sequencing, ploidy analysis, gene expression, and methylation profiling. We identified whole genome duplication as a prevalent and pernicious force in USARC tumorigenesis. Using mathematical deconvolution strategies to unravel the complex copy-number profiles and mutational timing models we infer distinct evolutionary pathways of these rare cancers. In addition, 15% of tumors exhibited raised mutational burdens that correlated with gene expression signatures of immune infiltration, and good prognosis.2019-04-17 09:51:55EGAS000010032919606EGAD00001004439EGAC00001001055