| Many genes involved in osteosarcoma development have yet to be described. The chromosomal regions commonly altered in osteosarcoma mark the location of further tumor suppressor genes and oncogenes. The study of these regions may yield further understanding of known cancer genes and the isolation of novel ones. I therefore had two objectives: (i) the investigation of 12q13-15, a region commonly amplified in osteosarcoma and (ii) the isolation of novel genes involved in osteosarcoma pathogenesis. Three genes located at 12q13-15 are most likely to be driving amplification: SAS, CDK4 and MDM2. Analysis of gene amplification and expression indicated that the region is more frequently amplified in the parosteol subtype of osteosarcoma and that SAS may be the most critical gene. In addition, the analysis of gene expression in osteosarcoma tumor samples isolated a number of genes potentially involved in tumor development and progression, including the von Willebrand factor gene. |
