High-resolution profiling of copy-number aberrations in osteosarcoma. Homo sapiens

Osteosarcoma is a rare, highly malignant tumor of the bone that presents with a highly complex and abnormal karyotype. Only a few of the genes, which are targets of genetic alteration are known. An integrated genome-wide genomic and gene expression profiling analysis was performed on human osteosarcoma tissues and osteosarcoma cell lines in order to identify and map, in a high-resolution fashion, the most drastic chromosomal changes and point out genes which could contribute to tumorigenesis by having altered expression levels of critical oncogenes and tumor suppressors. Combined gene expression and aCGH analysis on the same samples enables direct comparison between DNA and mRNA level and offers a general strategy to identify and prioritize potential targets while the parallel analysis on cell lines offers a reliable models for further functional studies. Overall design: An integrated genomewide DNA and RNA level data was performed to achieve more accurate information about the target genes involved in the region of gain and loss that present with a consistent expression pattern of variation. 40 osteosarcoma tumor specimens, 12 osteosarcoma cell lines, 1 osteoblast cell line