DNA Biomarkers in Samples From Patients With Osteosarcoma and Healthy Volunteers

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.

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