Sarcoma
Conditions
Keywords
childhood desmoplastic small round cell tumor, metastatic childhood soft tissue sarcoma, nonmetastatic childhood soft tissue sarcoma, recurrent childhood soft tissue sarcoma, recurrent adult soft tissue sarcoma, stage I adult soft tissue sarcoma, stage II adult soft tissue sarcoma, stage III adult soft tissue sarcoma, stage IV adult soft tissue sarcoma, adult desmoplastic small round cell tumor
Brief summary
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.
Detailed description
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.
Interventions
Sponsors
Study design
Eligibility
Inclusion criteria
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of novel mutations, single nucleotide polymorphisms, and copy number changes associated with DSRCT | — |
| Identification of genomic regions involved in pathogenesis of DSRCT | — |