title: Transcription factor E3 and transcription factor EB renal cell carcinomas: clinical features, biological behavior and prognostic factors.
abstract: OBJECTIVE
  Translocation renal cell carcinomas represent a distinct clinicopathological entity. Studying the natural history, biological behavior and potential prognostic factors are crucially warranted.
  
  
  METHODS
  We selected 54 patients with renal cell carcinoma with positive nuclear transcription factor E3 and transcription factor EB expression from the Juvenile RCC Network. Recurrence-free survival and overall survival were assessed.
  
  
  RESULTS
  Median patient age was 24 years (range 1 to 64) and the male-to-female ratio was 1:1.4. At diagnosis 35 patients (65%) had local disease while 19 (35%) presented with distant metastases. The latter patients were older (median age 36 years) and predominantly male (male-to-female ratio 2) whereas the former group had a median age of 16 years and a male-to-female ratio of 1:2.5. Overall 36 patients underwent complete tumor resection and of these 8 had recurring cancer. On univariate analysis only lymph node involvement and American Joint Committee on Cancer stage were associated with poor recurrence-free survival. When stratified according to lymph node status age 25 years or older was found to predict relapse (p = 0.03). With a median followup of 19.2 months (range 1 to 58) 3-year overall survival was 14.3% in patients with distant metastasis and 70.6% in those without distant metastasis. Distant metastasis developed in the 2 patients with ASPSCR1-TFE3 fusion vs 1 of 11 with other fusion genes.
  
  
  CONCLUSIONS
  Transcription factor E3 and transcription factor EB renal cell carcinoma display different clinical behavior according to gender and age. Lymph node involvement represents the only factor that predicts recurrence. ASPSCR1-TFE3 might be the most aggressive among the transcription factor E3 fusion genes.
authors.affiliation: Department of Medicine, Institut Gustave Roussy, Villejuif, France. ggmalouf@mdanderson.org
authors.forename: Gabriel G
authors.initials: GG
authors.lastname: Malouf
authors.forename: Philippe
authors.initials: P
authors.lastname: Camparo
authors.forename: Vincent
authors.initials: V
authors.lastname: Molinié
authors.forename: Guillaume
authors.initials: G
authors.lastname: Dedet
authors.forename: Stéphane
authors.initials: S
authors.lastname: Oudard
authors.forename: Gudrun
authors.initials: G
authors.lastname: Schleiermacher
authors.forename: Christine
authors.initials: C
authors.lastname: Theodore
authors.forename: Janice
authors.initials: J
authors.lastname: Dutcher
authors.forename: Bertrand
authors.initials: B
authors.lastname: Billemont
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Bompas
authors.forename: Aline
authors.initials: A
authors.lastname: Guillot
authors.forename: Liliane
authors.initials: L
authors.lastname: Boccon-Gibod
authors.forename: Jérôme
authors.initials: J
authors.lastname: Couturier
authors.forename: Bernard
authors.initials: B
authors.lastname: Escudier
mesh_terms: D000293:Adolescent; D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000401:mortality / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007680:Kidney Neoplasms / Q000235:genetics / Q000401:mortality / Q000473:pathology; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D015996:Survival Rate; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C069203:TFE3 protein, human; C064972:TFEB protein, human