Paediatric undifferentiated soft tissue sarcomas (USTSs) are a diagnostically challenging group of neoplasms. We hypothesized that USTSs contain distinct subgroups that can be identified based on their morphology, genomic aberrations and expression profiles. We sought to characterize genomic aberrations within primitive round cell (PRC) sarcomas which may underlie aberrant expression patterns. Using molecular and cytogenetic analyses, we identified 5 of 18 CIC-DUX4-positive PRC sarcomas. The consistent involvement of the CIC-DUX4 fusion in a subset of PRC sarcomas suggests a central role for the fusion transcript in such tumours. These analyses also identified a cohort of CIC-DUX4-negative USTSs with no established genetic markers. We performed integrative copy number and expression profiling, and identified significant genomic and transcriptomic changes. We propose that these genes are involved in biological pathways that are important to the initiation and progression of undifferentiated sarcoma, and may provide novel insights into the biological events responsible for sarcomagenesis.
| Identifer | oai:union.ndltd.org:TORONTO/oai:tspace.library.utoronto.ca:1807/29551 |
| Date | 24 August 2011 |
| Creators | Graham, Cassandra |
| Contributors | Somers, Gino, Zielenska, Maria |
| Source Sets | University of Toronto |
| Language | en_ca |
| Detected Language | English |
| Type | Thesis |
Page generated in 0.0009 seconds