Comprehensive Genome Sequencing of Desmoplastic Small Round Cell Tumors
- 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.
Identification of novel mutations, single nucleotide polymorphisms, and copy number changes associated with DSRCT
Pooja Hingorani, MD
Phoenix Children's Hospital
United States: Federal Government