title: PAX3/7-FOXO1 fusion status in older rhabdomyosarcoma patient population by fluorescent in situ hybridization.
abstract: OBJECTIVE
  In pediatric alveolar rhabdomyosarcoma, the PAX3-FOXO1 and PAX7-FOXO1 gene fusions are prognostic indicators, while little is known concerning this disease in older patients. To determine whether PAX3/7-FOXO1 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.
  
  
  METHODS
  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.
  
  
  RESULTS
  Fifty-two percent of the samples exhibited a PAX3-FOXO1 fusion, 15% the PAX7-FOXO1 fusion, and 33% were negative for a rearrangement of these loci. The presence of PAX3/7-FOXO1 translocation was significantly associated with a higher frequency of metastatic disease. Although a statistically significant correlation between the PAX3/7-FOXO1 fusion gene status and overall survival was not identified, there was a trend toward better outcomes for patients with fusion-negative RMS.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Sarcoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA. sarahndumont@yahoo.fr
authors.forename: Sarah N
authors.initials: SN
authors.lastname: Dumont
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Lazar
authors.forename: Julia A
authors.initials: JA
authors.lastname: Bridge
authors.forename: Robert S
authors.initials: RS
authors.lastname: Benjamin
authors.forename: Jonathan C
authors.initials: JC
authors.lastname: Trent
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors / Q000235:genetics*; D050939:Gene Fusion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007223:Infant; D008297:Male; D008875:Middle Aged; D009362:Neoplasm Metastasis; D000072041:PAX3 Transcription Factor; D051763:PAX7 Transcription Factor / Q000235:genetics*; D051761:Paired Box Transcription Factors / Q000235:genetics*; D011379:Prognosis; D018232:Rhabdomyosarcoma, Alveolar / Q000235:genetics* / Q000473:pathology*; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics / Q000473:pathology; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: C085126:FOXO1 protein, human; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051763:PAX7 Transcription Factor; C497321:PAX7 protein, human; D051761:Paired Box Transcription Factors
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