Studying Genes in Samples From Younger Patients With Desmoplastic Small Round Cell Tumor Registered on COG-D9902 or COG-ABTR01B1

OBJECTIVES:

* 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.

• DNA analysis (Genetic)
• RNA analysis (Genetic)
• gene expression analysis (Genetic)
• mutation analysis (Genetic)
• nucleic acid sequencing (Genetic)
• polymerase chain reaction (Genetic)
• laboratory biomarker analysis (Other)
• pharmacogenomic studies (Other)

Primary outcomes

• Identification of novel mutations, single nucleotide polymorphisms, and copy number changes associated with DSRCT
• Identification of genomic regions involved in pathogenesis of DSRCT

Sex: All, ages: any to 50 Years

DISEASE CHARACTERISTICS:

* Tumor and blood samples from patients registered on COG-D9902 or COG-ABTR01B1 obtained from the Cooperative Human Tissue Network (CHTN) and the Children's Oncology Group (COG) tumor banks
* Matched normal samples

PATIENT CHARACTERISTICS:

* Not specified

PRIOR CONCURRENT THERAPY:

* Not specified

• Pooja Hingorani, MD, Principal investigator, Phoenix Children's Hospital