Characterization of the Osteosarcoma Genome

Division Of Basic Sciences - Nci

Investigators

Linked publications & trials

Abstract

As osteosarcoma is a rare cancer, obtaining suitable biospecimens is a major obstacle to studying this disease. To overcome this problem it has been necessary to reach outside of the intramural community. A collaboration to obtain specimens has been established with the Childrens Oncology Group (COG), the primary national cooperative clinical trials group for pediatric cancer, to sequence specimens collected under COG trial. As osteosarcoma had been selected by the TARGET project (NCIs Therapeutically Applicable Research to Generate Effective Treatments, http://target.cancer.gov/about/), the TARGET infrastructure has been used to facilitate the COG collaboration. This collaboration has provided samples for analysis. Data also has been generated for a panel of osteosarcoma cell lines. This will be highly useful for the long term goals of the project since well characterized cell lines can be used for our functional investigation sof the biologically important results obtained in the course of this research. Weare now actively analyzing data from clinical biospecimens collected through the TARGET program. This entails the sequencing of exomes, transcriptomes, and, from selected specimens, whole genomes. The data has been deposited in public databases. Our current goals are to identify clinically relevant genomic biomarkers and to identify genes and pathways which may have therapeutic implications. Studies are ongoing in the canine model with the intent of integrating canine and human genomic data to help define the critical oncogenic pathways and mechanisms of genome instability shared between these two models. We are particularly interested in using the canine model to study tumor clonality in primary tumors, a topic that can more easily be addressed in the canine system which does not incorporate neoadjuvant chemotherapy prior to definitive surgery.