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Circulating Tumor DNA in Intermediate Risk Rhabdomyosarcoma
Circulating Tumor DNA in Intermediate Risk Rhabdomyosarcoma
Data Resource:
dbGaP
Point of Contact:
Brian D. Crompton
,
briand_crompton@dfci.harvard.edu
Project
About This Dataset
In this study, we evaluated circulating tumor DNA (ctDNA) as a biomarker in the serum of 124 patients with newly diagnosed intermediate risk rhabdomyosarcoma (IR RMS) from the Children's Oncology Group (COG) biorepository. In addition to pre-treatment serum, we also analyzed matched tumor tissue and germline in a subset of patients. We profiled samples using ultra-low passage whole genome sequencing (ULP-WGS) and a new custom hybrid-capture sequencing assay, Rhabdo-Seq, to detect copy number alterations, rearrangements, and single nucleotide variants. We found that patients with detectable ctDNA at diagnosis had significantly worse outcomes than those without detectable levels of ctDNA. Our study demonstrates that baseline ctDNA detection is feasible and prognostic in IR RMS. The ULP-WGS and targeted next-generation sequencing (Rhabdo-Seq and TranSS-Seq) data are available in this study.
Core Data Elements
Number of Cases
124
Case Sex
Female (30); Male (44); Unknown (50)
Case Age At Diagnosis
Pediatric and Young Adult (<40 years) (124)
Case Race
Not Reported (124)
Case Ethnicity
Not Reported (124)
Case Disease Diagnosis
Rhabdomyosarcoma (124)
Number of Samples
295
Sample Analyte Type
DNA (295)
Sample Anatomic Site
Blood (58); Bone Marrow (8); Serum (122); Tumor (107)
Additional Data Elements
CLINICAL TRIAL IDENTIFIER
NCT00003958 NCT00354835 NCT00919269
NCT00003958
NCT00354835
NCT00919269
DBGAP STUDY IDENTIFIER
phs002866
Grant Information
U10CA098413
Children's Oncology Group Statistics and Data Center Grant
U10CA098543
Children's Oncology Group Chair's Grant
U10CA180886
COG NCTN Network Group Operations Center
U10CA180899
Children's Oncology Group Statistics and Data Center
Published In
https://doi.org/10.1002/cncr.32204
https://doi.org/10.1200/jco.2009.22.3768
https://doi.org/10.1002/cncr.32204;https://doi.org/10.1200/jco.2009.22.3768
Charts
case sex
Unknown (50);
Male (44);
Female (30)
50
Unknown