Genomic Study of Metastatic Osteosarcoma Using Next-Generation Sequencing Technology

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.