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DNA Biomarkers in Samples From Patients With Osteosarcoma and Healthy Volunteers

This study has been completed.
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group Identifier:
First received: June 8, 2010
Last updated: May 17, 2016
Last verified: May 2016

RATIONALE: Studying samples of blood and 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 DNA biomarkers in samples from patients with osteosarcoma and healthy volunteers.

Condition Intervention
Sarcoma Genetic: DNA analysis Genetic: RNA analysis Genetic: fluorescence in situ hybridization Genetic: microarray analysis Genetic: polymerase chain reaction Genetic: reverse transcriptase-polymerase chain reaction Other: laboratory biomarker analysis

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Retrospective
Official Title: Search for Novel Genes in Osteosarcoma Revealed by Analysis of Tumour Copy-Number Alterations and Constitutional Copy-Number Variations

Resource links provided by NLM:

Further study details as provided by Children's Oncology Group:

Primary Outcome Measures:
  • Role of copy-number alterations (CNAs) in the etiology of osteosarcoma
  • Association between copy-number variations (CNVs) at chr7p14.1 and susceptibility to osteosarcoma
  • Relationship between CNVs and tumor CNAs in osteosarcoma

Estimated Enrollment: 90
Study Start Date: April 2010
Primary Completion Date: May 2016 (Final data collection date for primary outcome measure)
Detailed Description:


  • To determine whether common copy-number alterations (CNAs) at chr7p14.1 arise de novo in osteosarcoma (OS) tumor DNA or whether they represent progression of constitutional copy-number variations (CNVs).
  • To determine the association between constitutional CNVs at chr7p14.1 and susceptibility to OS.
  • To determine how CNVs translate into CNAs in tumor DNA samples from patients with OS.

OUTLINE: RNA and DNA samples from banked blood and paired tumor tissue, plus samples from healthy controls, are analyzed for common copy-number alterations and constitutional copy-number variations (CNVs) at chr7p14.1 by microarray, q-PCR, RT-PCR, and FISH. Osteosarcoma predisposing CNVs results are then compared among cases versus healthy controls.

Clinical information associated with each osteosarcoma sample (i.e., gender, age of diagnosis, tumor site, tumor type and grade, presence of metastases at time of diagnosis, response to chemotherapy, event-free survival, and overall survival) is also collected, if available.

PROJECTED ACCRUAL: A total of 243 samples from patients with osteosarcoma and 80 samples from healthy controls will be accrued to this study.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Diagnosis of osteosarcoma


  • Meets 1 of the following criteria:

    • Diagnosis of osteosarcoma (OS) and meets 1 of the following criteria:

      • Original 153 OS samples, including paired germline and tumor DNA
      • Additional samples from 90 patients with OS:

        • Blood samples
        • Germline DNA
        • Paired tumor biopsy tissue (not from resection) obtained before systemic chemotherapy
    • Healthy controls, age- and gender-matched


  • Not specified


  • See Disease Characteristics
  Contacts and Locations
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Please refer to this study by its identifier: NCT01139983

Sponsors and Collaborators
Children's Oncology Group
National Cancer Institute (NCI)
Principal Investigator: David Malkin, MD The Hospital for Sick Children
  More Information

Responsible Party: Children's Oncology Group Identifier: NCT01139983     History of Changes
Other Study ID Numbers: AOST10B4
COG-AOST10B4 ( Other Identifier: Children's Oncology Group )
CDR0000674830 ( Other Identifier: Clinical )
NCI-2011-02234 ( Registry Identifier: CTRP (Clinical Trial Reporting Program) )
Study First Received: June 8, 2010
Last Updated: May 17, 2016

Keywords provided by Children's Oncology Group:

Additional relevant MeSH terms:
Neoplasms, Bone Tissue
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Sarcoma processed this record on September 21, 2017