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

Genomic Study of Metastatic Osteosarcoma Using Next-Generation Sequencing Technology

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.

OBJECTIVES:

• 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.

DISEASE CHARACTERISTICS:

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

PATIENT CHARACTERISTICS:

• Not specified

PRIOR CONCURRENT THERAPY:

• Not specified