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Alveolar rhabdomyosarcoma – The molecular drivers of PAX3/7-FOXO1-induced tumorigenesis

Amy D Marshall12 and Gerard C Grosveld1*

Author Affiliations

1 Department of Genetics, St Jude Children’s Research Hospital, Memphis, TN, 38105, USA

2 Gene and Stem Cell Therapy Laboratory, Centenary Institute, University of Sydney, Missenden Road, Camperdown, NSW, 2050, Australia

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Skeletal Muscle 2012, 2:25  doi:10.1186/2044-5040-2-25

Published: 3 December 2012


Rhabdomyosarcoma is a soft tissue sarcoma arising from cells of a mesenchymal or skeletal muscle lineage. Alveolar rhabdomyosarcoma (ARMS) is more aggressive than the more common embryonal (ERMS) subtype. ARMS is more prone to metastasis and carries a poorer prognosis. In contrast to ERMS, the majority of ARMS tumors carry one of several characteristic chromosomal translocations, such as t(2;13)(q35;q14), which results in the expression of a PAX3-FOXO1 fusion transcription factor. In this review we discuss the genes that cooperate with PAX3-FOXO1, as well as the target genes of the fusion transcription factor that contribute to various aspects of ARMS tumorigenesis. The characterization of these pathways will lead to a better understanding of ARMS tumorigenesis and will allow the design of novel targeted therapies that will lead to better treatment for this aggressive pediatric tumor.

Alveolar rhabdomyosarcoma; PAX3-FOXO1; PAX7-FOXO1; FGFR4; CNR1; IRIZIO; N-MYC; IGF2; MET; CXCR4; p53; MDM2; P-Cadherin; TFAP2B; miR17-92