Original Paper

Journal of Cancer Research and Clinical Oncology

, Volume 138, Issue 2, pp 213-220

First online:

PAX3/7FOXO1 fusion status in older rhabdomyosarcoma patient population by fluorescent in situ hybridization

  • Sarah N. DumontAffiliated withDepartment of Sarcoma Medical Oncology, The University of Texas MD Anderson Cancer Center Email author 
  • , Alexander J. LazarAffiliated withDepartment of Pathology, The University of Texas MD Anderson Cancer Center
  • , Julia A. BridgeAffiliated withDepartment of Pathology and Microbiology, University of Nebraska Medical Center
  • , Robert S. BenjaminAffiliated withDepartment of Sarcoma Medical Oncology, The University of Texas MD Anderson Cancer Center
  • , Jonathan C. TrentAffiliated withSarcoma Center, Sylvester Comprehensive Cancer Center

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In pediatric alveolar rhabdomyosarcoma, the PAX3FOXO1 and PAX7FOXO1 gene fusions are prognostic indicators, while little is known concerning this disease in older patients. To determine whether PAX3/7FOXO1 fusion gene status correlates with outcome in adolescent, young adult, and adult rhabdomyosarcoma patients, the histological, immunohistochemical, and clinical characteristics of 105 patients followed at The University of Texas MD Anderson Cancer Center from 1957 to 2001 were evaluated.


The samples were assembled into a tissue microarray, and fusion gene status was determined by fluorescence in situ hybridization using PAX3, PAX7, and FOXO1 loci-specific probes. The disease characteristics and specific gene fusion were correlated with patient outcomes using the log-rank test.


Fifty-two percent of the samples exhibited a PAX3FOXO1 fusion, 15% the PAX7FOXO1 fusion, and 33% were negative for a rearrangement of these loci. The presence of PAX3/7FOXO1 translocation was significantly associated with a higher frequency of metastatic disease. Although a statistically significant correlation between the PAX3/7FOXO1 fusion gene status and overall survival was not identified, there was a trend toward better outcomes for patients with fusion-negative RMS.


Therefore, identification of a FOXO1 fusion appears to be an interesting tool for predicting outcomes in older rhabdomyosarcoma patients and is worth further investigations in this rare subgroup of RMS population.


Rhabdomyosarcoma Chromosomal rearrangement PAXFOXO1 Fluorescent in situ hybridization Tissue microarray