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

Comprehensive Genome Sequencing of Desmoplastic Small Round Cell Tumors

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.

Study Overview

• Status: Completed
• Conditions: Sarcoma
• Intervention / Treatment: Genetic: gene expression analysis; Other: laboratory biomarker analysis; Genetic: mutation analysis; Other: pharmacogenomic studies; Genetic: DNA analysis; Genetic: RNA analysis; Genetic: polymerase chain reaction; Genetic: nucleic acid sequencing

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.

• Study Type: Observational
• Enrollment (Anticipated): 20

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 50 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients registered on COG-D9902 or COG-ABTR01B1.

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Children's Oncology Group
• Collaborators: National Cancer Institute (NCI)
• Investigators: Principal Investigator: Pooja Hingorani, MD, Phoenix Children's Hospital

Study record dates

Study Major Dates

• Study Start: September 1, 2011
• Primary Completion (Actual): May 1, 2016

Study Registration Dates

• First Submitted: September 7, 2011
• First Submitted That Met QC Criteria: September 7, 2011
• First Posted (Estimate): September 8, 2011

Study Record Updates

• Last Update Posted (Estimate): May 18, 2016
• Last Update Submitted That Met QC Criteria: May 17, 2016
• Last Verified: May 1, 2016

More Information

Terms related to this study

• Keywords: stage IV adult soft tissue sarcoma; recurrent adult soft tissue sarcoma; stage III adult soft tissue sarcoma; stage II adult soft tissue sarcoma; metastatic childhood soft tissue sarcoma; recurrent childhood soft tissue sarcoma; stage I adult soft tissue sarcoma; nonmetastatic childhood soft tissue sarcoma; childhood desmoplastic small round cell tumor; adult desmoplastic small round cell tumor
• Additional Relevant MeSH Terms: Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Sarcoma; Desmoplastic Small Round Cell Tumor
• Other Study ID Numbers: ARST11B5 (Other Identifier: Children's Oncology Group); COG-ARST11B5 (Other Identifier: Children's Oncology Group); NCI-2011-03455 (Registry Identifier: CTRP (Clinical Trial Reporting Program))