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Genomic Sequencing of Ewing Sarcoma
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Kimberly Stegmaier,  
Project

About This Dataset
Pediatric Ewing sarcoma is a pediatric cancer that primarily arises from the bone. It is characterized by chimeric fusions of the EWS 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 STAG2 were present in approximately 15% of Ewing sarcoma tumors and loss of STAG2 expression was associated with disease metastasis in this patient cohort.
Core Data Elements
Number of Cases
102
Case Sex
Female (50); Male (52)
Case Age At Diagnosis
0 to 4 years (9); 5 to 9 years (13); 10 to 14 years (18); 15 to 19 years (17); 20 to 24 years (1); Pediatric and Young Adult (<40 years) (44)
Case Race
Black or African American (1); White (23); Not Reported (78)
Case Ethnicity
Hispanic or Latino (2); Not Hispanic or Latino (22); Not Reported (78)
Case Disease Diagnosis
Ewing Sarcoma (102)
Case Tumor Site
Buttock (1); Chest Wall (8); Clavicle (2); Face (1); Femur (6); Fibula (4); Gluteus Muscle (2); Humerus (1); Iliac Bone (3); Iliac Crest (2); Mediastinum and Lungs (1); Neck (1); Parasacral (1); Paraspinal (1); Pelvis (4); Pubic Bone (2); Rib (2); Sacrum (1); Scalp (1); Scapula (1); Shoulder (1); Talus (1); Thigh (1); Thorax (1); Tibia (6); Vertebral Body (3); Not Reported (44)
Number of Samples
92
Sample Assay Method
RNA Sequencing (30); SNP Array (27); Whole Exome Sequencing (92); Whole Genome Sequencing (7)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
SU2C-AACR-IRG0509
Stand Up To Cancer Innovative Research Grant
Published In
https://doi.org/10.1158/2159-8290.cd-13-1037
Charts
Male (52); Female (50)
52Male