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Comprehensive Genome Sequencing of Desmoplastic Small Round Cell Tumors


N/A
N/A
50 Years
Open (Enrolling)
Both
Sarcoma

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Trial Information

Comprehensive Genome Sequencing of Desmoplastic Small Round Cell Tumors


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.

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

Type of Study:

Observational

Study Design:

N/A

Outcome Measure:

Identification of novel mutations, single nucleotide polymorphisms, and copy number changes associated with DSRCT

Safety Issue:

No

Principal Investigator

Pooja Hingorani, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Phoenix Children's Hospital

Authority:

United States: Federal Government

Study ID:

CDR0000710821

NCT ID:

NCT01430637

Start Date:

September 2011

Completion Date:

Related Keywords:

  • Sarcoma
  • 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
  • Desmoplastic Small Round Cell Tumor
  • Sarcoma

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