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DNA Methylation Characterization of Fusion-Positive and Fusion-Negative Rhabdomyosarcoma
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Frederic G. Barr, MD, PhD,  
Project

About This Dataset
Rhabdomyosacoma (RMS) is a common pediatric soft tissue tumor that is associated with the skeletal muscle lineage. RMS comprises two major subtypes: fusion-positive (FP, most commonly PAX3-FOXO1 or PAX7-FOXO1) and fusion-negative (FN, frequently associated with mutations in RAS pathway). Our previous study demonstrated that FP and FN tumors exhibit distinct DNA methylation profiles. In this study, further investigation of genome-wide DNA methylation profiles in RMS tumors revealed DNA methylation differences between AX3-FOXO1 and PAX7-FOXO1 subsets in FP RMS, and between RAS mutation and RAS wild-type subsets in FN RMS. These data provide new insight into the relationship of DNA methylation with mutational changes and transcriptional organization in FP and FN RMS.
Core Data Elements
Number of Cases
134
Case Sex
Not Reported (134)
Case Age At Diagnosis
Pediatric and Young Adult (<40 years) (134)
Case Race
Not Reported (134)
Case Ethnicity
Not Reported (134)
Case Disease Diagnosis
Rhabdomyosarcoma (134)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
R21CA150091
DNA methylation-based assays for detecting disease spread in rhabdomyosarcoma
ZIABC011423
Epigenetic studies in rhabdomyosarcoma
Published In
https://doi.org/10.1002/ijc.32006;https://doi.org/10.1038/modpathol.2015.82
Charts
Not Reported (134)
134Not Reported