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Genomic Sequencing of Pediatric Rhabdomyosarcoma
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Javed Khan,  
Project

About This Dataset
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood accounting for approximately 350 newly diagnosed cases yearly in the United States. With the development of multimodal chemotherapy regimens, relapse-free survival rates have improved to 70-80% in patients with localized disease albeit with significant toxicity. Unfortunately, despite aggressive treatment, patients with metastatic or recurrent disease continue to suffer from high mortality. Further characterization of the genetic events underlying this tumor type is critical for the development of more effective diagnostic, prognostic and therapeutic strategies. In a collaborative effort between the National Cancer Institute, the Children's Oncology Group, and the Broad Institute, we use a combination of whole-genome and whole-exome sequencing to characterize the landscape of somatic alterations in tumor/normal pairs.
Core Data Elements
Number of Cases
147
Case Sex
Female (67); Male (77); Unknown (3)
Case Age At Diagnosis
0 to 4 years (59); 5 to 9 years (32); 10 to 14 years (27); 15 to 19 years (14); 20 to 24 years (1); 30 to 34 years (1); Pediatric and Young Adult (<40 years) (13)
Case Race
Not Reported (147)
Case Ethnicity
Not Reported (147)
Case Disease Diagnosis
Rhabdomyosarcoma (147)
Case Tumor Site
Abdomen (1); Abdomen, Urachal Mass (1); Abdomen/Diaphram (1); Abdomen/Trunk (1); Abdominal Wall (6); Bladder (8); Buccal Mucosa (1); Cervical Node (1); Cheek (1); Chest Wall (1); Distal Femur (1); Extremity (6); Face (1); Forearm (3); Hand (2); Head and Neck (9); Infratemporal fossa (1); Intrahepatic Bile Duct (1); Left Chest, Diaphram (1); Left Gluteus (1); Left Orbital (1); Left Scapula (1); Left Testis (1); Left Thigh (1); Left Triceps (1); Lower Limb (2); Mandible (1); Mediastinum (1); Middle Ear, Eustachian Tube, Mastoid (1); Nasal Cavity (2); Nasopharynx (2); Omentum (1); Orbit (4); Oropharynx (1); Parameningeal (1); Paranasal Sinus (2); Parapharyngeal (1); Paraspinal (1); Paratesticular (9); Paravertebral (1); Pelvis (20); Pelvis, Uterine (1); Pelvis/Buttock (1); Pelvis/Labia (1); Pelvis/Perineal (1); Perineal (3); Pleura (2); Pterygopalatine (1); Renal (1); Retroperitoneal (1); Retroperitoneal (1); Retroperitoneal Pelvis (1); Retroperitoneum (2); Right Calf (2); Right Orbit (1); Right Parapharyngeal (1); Right Shoulder (1); Right Thigh (2); Soft Tissue Perineum (1); Soft tissue right Hip (1); Testis-Paratestis (4); Thigh (1); Trunk (2); Uterus (1); Vagina (1); Vulva (1); Not Reported (9)
Number of Samples
147
Sample Assay Method
RNA Sequencing (85); Whole Exome Sequencing (133); Whole Genome Sequencing (44)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
U10CA098543
Children's Oncology Group Chair's Grant
Published In
https://doi.org/10.1158/2159-8290.CD-13-0639;https://doi.org/10.1200/PO.20.00218
Charts
Male (77); Female (67); Unknown (3)
77Male