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Comprehensive Omics Analysis of Pediatric Solid Tumors and Establishment of a Repository for Related Biologic Studies (10C0086)
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Rosandra N. Kaplan, MD,  
Project

About This Dataset
This study (10-C-0086) collected and analyzed tumor and circulating tumor omics of pediatric and young adult patients with relapsed rhabdomyosarcoma who were co-enrolled in and receiving treatment on the interventional study 17-C-0049. We sought to describe the summary genomic findings of tumors, and report on the detection of circulating tumor DNA (ctDNA) in serial samples. Tumor tissue and blood were collected and analyzed. Tumor samples were subjected to whole exome and/or whole genome sequencing paired with RNA-Seq. Cell free DNA (cfDNA) was extracted from serially collected blood samples and sequenced. Fusion status, mutations, and IGF1R and YES1 expression from tumor samples revealed the presence of a PAX3 fusion in most samples, a number of common mutations, and universal but heterogeneous expression of IGF-1R and YES1. ctDNA was detected above the 3% threshold in a majority of patients and analysis of cfDNA demonstrated an ability to monitor tumor clonal evolution.
Core Data Elements
Number of Cases
12
Case Sex
Female (7); Male (5)
Case Age At Diagnosis
5 to 9 years (3); 10 to 14 years (3); 15 to 19 years (4); 25 to 29 years (2)
Case Race
Not Reported (12)
Case Ethnicity
Not Reported (12)
Case Disease Diagnosis
Rhabdomyosarcoma (12)
Number of Samples
66
Sample Analyte Type
DNA (50); RNA (16)
Sample Is Normal
Yes (11); No (55)
Additional Data Elements
CLINICAL TRIAL IDENTIFIER
DBGAP STUDY IDENTIFIER
Charts
Female (7); Male (5)
7Female