Studying Genes in Samples From Younger Patients With Desmoplastic Small Round Cell Tumor Registered on COG-D9902 or COG-ABTR01B1
RATIONALE: Studying samples of blood and tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
PURPOSE: This research study is studying genes in samples from younger patients with desmoplastic small round cell tumor registered on COG-D9902 or COG-ABTR01B1.
|Sarcoma||Genetic: DNA analysis Genetic: RNA analysis Genetic: gene expression analysis Genetic: mutation analysis Genetic: nucleic acid sequencing Genetic: polymerase chain reaction Other: laboratory biomarker analysis Other: pharmacogenomic studies|
|Study Design:||Observational Model: Case Control
Time Perspective: Retrospective
|Official Title:||Comprehensive Genome Sequencing of Desmoplastic Small Round Cell Tumors|
- Identification of novel mutations, single nucleotide polymorphisms, and copy number changes associated with DSRCT
- Identification of genomic regions involved in pathogenesis of DSRCT
|Study Start Date:||September 2011|
|Primary Completion Date:||May 2016 (Final data collection date for primary outcome measure)|
- To perform whole-exome sequencing on desmoplastic small round cell tumor (DSRCT) samples and their available matched normal samples to identify novel mutations, single nucleotide polymorphisms, or copy number changes associated with these tumors.
- To identify regions of interest that may be involved in the pathogenesis (including the region of EWSR1-WT1 translocation) from the whole-exome sequencing and perform detailed resequencing and transcriptone sequencing to further define the molecular aberrations at the RNA level.
OUTLINE: This is a multicenter study.
Archived tumor tissue samples are analyzed for DNA sequencing, effects of RNA on gene expression levels, novel RNA isoforms, splice variants, and translocations.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01430637
|Principal Investigator:||Pooja Hingorani, MD||Phoenix Children's Hospital|