Clinical trial NCT01139983: DNA Biomarkers in Samples From Patients With Osteosarcoma and Healthy Volunteers
Official title: Search for Novel Genes in Osteosarcoma Revealed by Analysis of Tumour Copy-Number Alterations and Constitutional Copy-Number Variations
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Sarcoma
Keywords: osteosarcoma
Lead sponsor: Children's Oncology Group
Sponsor class: NETWORK
Collaborators: name: National Cancer Institute (NCI)
First posted: 2010-06-09
Enrollment: 90
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Diagnosis of osteosarcoma

Brief summary: 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.

Detailed description: OBJECTIVES:

* 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.

Eligibility criteria: DISEASE CHARACTERISTICS:

* 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

PATIENT CHARACTERISTICS:

* Not specified

PRIOR CONCURRENT THERAPY:

* See Disease Characteristics

Primary outcomes:
measure: Role of copy-number alterations (CNAs) in the etiology of osteosarcoma
measure: Association between copy-number variations (CNVs) at chr7p14.1 and susceptibility to osteosarcoma
measure: Relationship between CNVs and tumor CNAs in osteosarcoma
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
affiliation: The Hospital for Sick Children
name: David Malkin, MD
role: PRINCIPAL_INVESTIGATOR
References: