ID
45522
Description
Principal Investigator: Javed Khan, MD, National Institutes of Health, Bethesda, MD, USA MeSH: Rhabdomyosarcoma,Rhabdomyosarcoma, Alveolar,Rhabdomyosarcoma, Embryonal https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000720 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 147 tumor/normal pairs.
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Versions (2)
- 12/14/22 12/14/22 - Simon Heim
- 1/29/25 1/29/25 - Akane Nishihara
Copyright Holder
Javed Khan, MD, National Institutes of Health, Bethesda, MD, USA
Uploaded on
December 14, 2022
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License
Creative Commons BY 4.0
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dbGaP phs000720 Genomic sequencing of Pediatric Rhabdomyosarcoma
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, sex, and consent group of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.
- Subject ID, sample ID, and sample use variable of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.
- Subject ID, age at onset, and sex of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status, histological type of sample, primary tumor or metastasis, and sequencing center of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, sex, and consent group of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.
- Subject ID, sample ID, and sample use variable of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.
- Subject ID, age at onset, and sex of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status, histological type of sample, primary tumor or metastasis, and sequencing center of participants with pediatric rhabdomyosarcoma and involved in the "Genomic sequencing of Pediatric Rhabdomyosarcoma" project.
C0680251 (UMLS CUI [1,2])
C0021430 (UMLS CUI [1,2])
C2348563 (UMLS CUI [1,3])
C0441833 (UMLS CUI [1,4])
C1516477 (UMLS CUI [1,5])
C1513882 (UMLS CUI [1,6])
C4764268 (UMLS CUI [1,7])
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