High-Resolution Array Comparative Genomic Hybridization Identifies Common Targets in Rhabdomyosarcoma




Paulson, Vera Ashley

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Rhabdomyosarcoma (RMS) accounts for nearly 50 percent of the soft tissue sarcomas that affect children. There are two major histological variants, alveolar (ARMS) and embryonal (ERMS). Both are defined as sarcomas that show exclusive evidence of muscle differentiation, but differ in their pathogenesis and prognosis. ARMS typically occurs in adolescents, presents as disease of the extremities, has a higher risk of metastasis or treatment-resistance, and in 75% of cases, is characterized by the presence of the PAX3/7:FOXO1A translocation. ERMS is associated with a younger age at presentation, sites of disease other than the extremities, a more favorable clinical outcome, and the absence of consistent chromosomal translocations. Here we used high-density array-based comparative genomic hybridization to examine the genomes of RMS to identify common programs that drive tumor pathogenesis.

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