“Molecular Dissection of a Subset of Gene Fusion-Associated Sarcomas that Lack the Gene Fusion”
Alveolar rhabdomyosarcoma is characterized by recurrent PAX3-FKHR and PAX7-FKHR gene fusions. We identified a subset of cases in which these fusions are present in only a small fraction of tumor cells or are undetectable. In this project, we will use allelic loss and high sensitivity RT-PCR assays to investigate the molecular basis of these low- and null-fusion subsets. We will utilize array-CGH to assess differences in genetic changes between these cases and standard fusion-positive cases. By dissecting these novel subsets, these studies will thereby clarify the role of these fusions in alveolar rhabdomyosarcoma pathogenesis and their utility as therapeutic targets.