Sarcomas represent a lethal subset of cancers within adult and pediatric populations. In contrast to many common cancers such as breast, prostate, colon, and lung, which are derived from epithelial tissues, sarcomas arise from mesenchymal tissues (bone, muscle, and connective tissues) and affect significantly younger individuals, especially children.
By light microcopy, sarcomas are often difficult to differentiate from each other and molecular methods are now being used to better define the disease. The Bernard Lab has developed real-time RT-PCR assays for the detection of disease-defining translocations in sarcomas. Based on this work there are now 3 clinically offered (ARUP Laboratories, Inc) molecular assays for Rhabdomyosarcoma (PAX3/7-FKHD), Synovial Sarcoma (SSX1/2-SYT), and Ewing's Sarcoma (EWS-FLI1/ERG). We are expanding the application of these assays, which are currently used to confirm the histological diagnosis, to detect minimal residual disease in the blood and bone marrow. These assays will be used in our mouse tumor models and in sarcoma patients.