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Study of Blood Samples From Patients With Osteosarcoma

This study has been completed.
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Children's Oncology Group Identifier:
First received: August 6, 2009
Last updated: May 17, 2016
Last verified: May 2016
This research trial studies blood samples from patients with osteosarcoma. Studying the genes found in samples of blood from patients with osteosarcoma may help doctors identify biomarkers related to the disease.

Condition Intervention
Localized Osteosarcoma
Metastatic Osteosarcoma
Recurrent Osteosarcoma
Other: laboratory biomarker analysis

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Retrospective
Official Title: Retrospective Study of Genetic Risk Factors for Osteosarcoma

Resource links provided by NLM:

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

Primary Outcome Measures:
  • Hardy-Weinberg equilibrium on all SNPs [ Time Frame: Baseline ]
    Determined on all SNPs by chi-square tests.

  • SNPs associated with OS [ Time Frame: Baseline ]
    Logistic regression will be used to estimate odds ratios and 95% confidence intervals for the association between each SNP and OS under co-dominant, dominant and recessive genetic models. Stratified analyses will be conducted to examine sex, tumor subtype and outcome differences.

  • Gene-gene interactions [ Time Frame: Baseline ]
    Assessed using a multiplicative model. Haplotypes will be constructed using both Bayesian and expectation-maximization algorithms. Differences between cases and controls will be evaluated with HaploStats which uses haplotype posterior probabilities as weights to update the regression coefficients in an iterative manner.

  • Survival outcomes [ Time Frame: Baseline ]
    Kaplan-Meier survival curves will be used to determine outcome relative to genotype.

  • Whole-exome variant loci [ Time Frame: Baseline ]
    Annotation and filtering of each whole-exome variant locus will be performed using a custom software pipeline. Variants in >= 2 OS cases will be validated, and then subsequently replicated in additional OS cases (samples previously received for the GWAS from international collaborators). Variants will also be evaluated for presence in known biologically plausible pathways and genes.

Biospecimen Retention:   Samples With DNA

Enrollment: 1000
Study Start Date: January 2009
Primary Completion Date: May 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Ancillary-correlative (osteosarcoma genetic risk)
Blood samples undergo polymorphism analysis of common single-nucleotide polymorphisms and haplotypes to examine genetic variation, gene-gene interactions, and the population structure.
Other: laboratory biomarker analysis
Correlative studies

Detailed Description:


I. Conduct a large-scale candidate gene association study in osteosarcoma (OS) using cases from the national Children's Oncology Group (COG) OS biology study (P9851 and successor study AOST06B1).


I. Conduct a genome-wide association study (GWAS) of OS. II. Fine-map genomic regions associated with OS to identify putative functional loci.

III. Conduct whole-exome sequencing of germline OS deoxyribonucleic acid (DNA) samples.

IV. Investigate the functional implications of promising genetic variants associated with OS.


Blood samples undergo polymorphism analysis of common single-nucleotide polymorphisms and haplotypes to examine genetic variation, gene-gene interactions, and the population structure.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
All osteosarcoma patients seen at COG institutions are eligible

Inclusion Criteria:

  • Blood samples collected from clinical trials COG-P9851 and COG-AOST06B1
  Contacts and Locations
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Please refer to this study by its identifier: NCT00954473

United States, California
Children's Oncology Group
Arcadia, California, United States, 91006-3776
Sponsors and Collaborators
Children's Oncology Group
National Cancer Institute (NCI)
Principal Investigator: Sharon Savage, MD Children's Oncology Group
  More Information

Responsible Party: Children's Oncology Group Identifier: NCT00954473     History of Changes
Other Study ID Numbers: AOST08B1
NCI-2011-02192 ( Registry Identifier: CTRP (Clinical Trial Reporting Program) )
COG-AOST08B1 ( Other Identifier: Children's Oncology Group )
AOST08B1 ( Other Identifier: Children's Oncology Group )
AOST08B1 ( Other Identifier: CTEP )
U10CA098543 ( US NIH Grant/Contract Award Number )
Study First Received: August 6, 2009
Last Updated: May 17, 2016

Additional relevant MeSH terms:
Neoplasms, Bone Tissue
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Sarcoma processed this record on April 27, 2017