Sarcoma, Ewing study with SNP Genotypes (Array), RNA-Seq + 2 more data on dbGaP (102 participants)

phs000804 — Genomic Sequencing of Ewing Sarcoma

<p>Pediatric Ewing sarcoma is a pediatric cancer that primarily arises from the bone. It is characterized by chimeric fusions of the <a href="https://www.ncbi.nlm.nih.gov/gene/2130">EWS </a>gene and an ETS family transcription factor. In this study, we performed massively parallel sequencing of a larger collection of Ewing sarcoma tumors to define the genomic landscape of this disease. We found that these tumors are among of the most genetically normal cancers currently characterized. There was also a marked absence of recurrent mutations in immediately targetable signaling transduction pathway genes. In this study we answer outstanding questions about ETS transcription factor expression, effects of treatment on mutational burden in Ewing sarcoma tumors, and describe patterns of tumor evolution. We also found that loss-of-function mutations in <a href="https://www.ncbi.nlm.nih.gov/gene/10735">STAG2 </a>were present in approximately 15% of Ewing sarcoma tumors and loss of STAG2 expression was associated with disease metastasis in this patient cohort.</p>