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ARST17B2-Q Germline and Somatic Genetic Landscape of Pediatric Rhabdomyosarcoma
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Philip J. Lupo, PhD,  
Project

About This Dataset
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. While these malignancies display aberrant myogenic differentiation, relatively little is known about genetic susceptibility to RMS, or how genetic variants influence subsequent somatic events and may be used in risk stratification strategies. A small percentage of cases are associated with mutations in TP53 (Li-Fraumeni syndrome), HRAS (Costello syndrome), and PTCH1 (nevoid basal cell carcinoma syndrome/Gorlin syndrome), suggesting the genetic origins of childhood RMS. In spite of this, little work has been done to characterize genetic susceptibility to this malignancy. We plan to leverage samples collected as part of D9902 to conduct one of the largest germline genomic studies of RMS. We anticipate that once genetic associations are identified, researchers can use the information to develop better strategies to detect, treat, and prevent childhood RMS.
Core Data Elements
Number of Cases
920
Case Sex
Female (384); Male (536)
Case Age At Diagnosis
0 to 9 years (610); Greater than 10 years (310)
Case Race
American Indian or Alaska Native (8); Asian (32); Black or African American (117); Native Hawaiian or Other Pacific Islander (4); White (659); Unknown (100)
Case Ethnicity
Hispanic or Latino (135); Not Hispanic or Latino (740); Unknown (45)
Case Disease Diagnosis
Alveolar Rhabdomyosarcoma (268); Embryonal Rhabdomyosarcoma (544); Other (108)
Number of Samples
920
Sample Analyte Type
DNA (920)
Sample Anatomic Site
Peripheral Blood (920)
Additional Data Elements
CLINICAL TRIAL IDENTIFIER
DBGAP STUDY IDENTIFIER
Charts
Male (536); Female (384)
536Male