Studying DNA in Tumor Tissue Samples From Patients With Localized or Metastatic Osteosarcoma

This study has been completed.
Information provided by:
National Cancer Institute (NCI) Identifier:
First received: February 3, 2010
Last updated: September 30, 2011
Last verified: September 2011

RATIONALE: Studying samples of tumor tissue and blood 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 looking at DNA in tumor tissue samples from patients with localized or metastatic osteosarcoma.

Condition Intervention
Genetic: DNA analysis
Genetic: RNA analysis
Genetic: gene expression analysis
Genetic: gene rearrangement analysis
Genetic: mutation analysis
Other: laboratory biomarker analysis

Study Type: Observational
Official Title: Genomic Study of Metastatic Osteosarcoma Using Next-Generation Sequencing Technology

Resource links provided by NLM:

Further study details as provided by National Cancer Institute (NCI):

Primary Outcome Measures:
  • Genomic expression profile in osteosarcoma tumor samples using transcriptome sequencing [ Designated as safety issue: No ]
  • Identification of activating and loss of function mutations and gene rearrangement using transcriptome sequencing [ Designated as safety issue: No ]
  • Mutations associated with outcome [ Designated as safety issue: No ]
  • Mutations also found in germ line DNA that predispose the patient to osteosarcoma [ Designated as safety issue: No ]

Estimated Enrollment: 99
Study Start Date: January 2010
Primary Completion Date: September 2011 (Final data collection date for primary outcome measure)
Detailed Description:


  • Determine the genomic expression profile in tumor tissue samples from patients with localized or metastatic osteosarcoma using transcriptome sequencing.
  • Identify activating and loss of function mutations and gene rearrangement in these tumor tissue samples using transcriptome sequencing.
  • Identify candidate genes that are important in osteosarcoma and tumorigenesis using genome partition strategies for genomic DNA sequencing.
  • Identify which mutations are associated with outcome.
  • Establish which mutations are also found in germ line DNA that predispose the patient to osteosarcoma.

OUTLINE: DNA and RNA from banked tumor tissue samples and DNA from paired blood samples are analyzed in sequencing studies using next-generation sequencing technology. The sequencing data from these tumor samples are matched to the Human RefSeq (for transcriptome sequencing) and normal human genome in the public databases and to the patient's germ line sequence to identify constitutional and somatic mutations.

Clinical information that is associated with each sample (i.e., age, tumor site, size, primary metastases, response to chemotherapy, surgical remission, follow-up time, and treatment protocol) is also collected, if available.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No


  • Diagnosis of localized or metastatic osteosarcoma
  • Banked snap-frozen tumor tissue samples and paired blood DNA samples available


  • Not specified


  • Not specified
  Contacts and Locations
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Please refer to this study by its identifier: NCT01062438

Sponsors and Collaborators
Children's Oncology Group
Principal Investigator: Javed Khan, MD NCI - Oncogenomics Section
  More Information

Additional Information:
No publications provided

Responsible Party: Gregory H. Reaman, Children's Oncology Group - Group Chair Office Identifier: NCT01062438     History of Changes
Other Study ID Numbers: CDR0000665327, COG-AOST10B3
Study First Received: February 3, 2010
Last Updated: September 30, 2011
Health Authority: United States: Federal Government

Keywords provided by National Cancer Institute (NCI):
localized osteosarcoma
metastatic osteosarcoma

Additional relevant MeSH terms:
Neoplasms by Histologic Type
Neoplasms, Bone Tissue
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Sarcoma processed this record on March 31, 2015