Trial Information

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.