Undifferentiated sarcomas develop through distinct evolutionary pathways

Dataset ID Technology Samples
EGAD00001004162 HiSeq X Ten 56

Dataset Description

Undifferentiated sarcomas (USARC) of adults are diverse, rare and aggressive soft tissue cancers. Recent efforts have confirmed that USARC exhibit one of the highest burdens of structural aberrations across human cancer. Here, we sought to unravel the genomic basis of this structural complexity by integrating whole genome sequencing, ploidy analysis and methylation profiling of 53 USARC. We identified whole genome doubling as a prevalent and pernicious force in USARC tumourigenesis. Deconvolution of the complex copy number and rearrangement landscapes show distinct signatures associated with chromothripsis, early-haploidy, and successive whole-genome-doubling events, suggesting four divergent models of sarcoma development. We show similar distinct evolutionary tumourigenic pathways in different sarcoma subtypes from the Cancer Genome Atlas. Thirteen percent of tumours exhibited a hypermutator phenotype, opening new avenues for clinical management such as immunotherapy, whilst the period prior to and between genome doubling events may represent clinically relevant interventional points in USARC.

Data Use Conditions


See further information on Data Use Conditions

Label Code Version Modifier
obsolete general research use and clinical care DUO:0000005 2017-10-16
obsolete research use only DUO:0000014 2017-10-16
publication required DUO:0000019 2017-10-16
user specific restriction DUO:0000026 2017-10-16
institution specific restriction DUO:0000028 2017-10-16