title: Clinicopathological features of Xp11.2 translocation renal cell carcinoma.
abstract: OBJECTIVE
  Xp11.2 translocation renal cell carcinoma (RCC) is characterized by various translocations of the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults. Here, we review the clinicopathological features of Xp11.2 translocation RCC.
  
  
  METHODS
  We identified 21 patients with Xp11.2 translocation RCC. We retrospectively analyzed patient characteristics, clinical manifestations, and specific pathological features to assess definitive diagnosis, surgical and systemic treatments, and clinical outcomes.
  
  
  RESULTS
  The mean age at diagnosis was 43.4±20.0 years (range, 8-80 years; 8 males and 13 females). Eleven patients were incidentally diagnosed, nine patients presented with local symptoms, and one patient presented with systemic symptoms. The mean tumor size was 6.2±3.8 cm (range, 1.9-14 cm). At the time of diagnosis, 11, 1, and 5 patients showed stage I, II, and III, respectively. Four patients showed distant metastasis. At analysis, 15 patients were disease-free after a median follow-up period of 30.0 months. Four patients received target therapy but not effectively.
  
  
  CONCLUSIONS
  Xp11 translocation RCC tends to develop in young patients with lymph node metastasis. Targeted therapy did not effectively treat our patients. Surgery is the only effective therapy for Xp11 translocation RCC, and further studies are needed to assess systemic therapy and long-term prognosis.
authors.affiliation: Department of Urology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Bumjin
authors.initials: B
authors.lastname: Lim
authors.affiliation: Department of Urology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Dalsan
authors.initials: D
authors.lastname: You
authors.affiliation: Department of Urology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: In Gab
authors.initials: IG
authors.lastname: Jeong
authors.affiliation: Department of Urology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Taekmin
authors.initials: T
authors.lastname: Kwon
authors.affiliation: Department of Urology, Dankook University College of Medicine, Cheonan, Korea.
authors.forename: Sungwoo
authors.initials: S
authors.lastname: Hong
authors.affiliation: Department of Urology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Cheryn
authors.initials: C
authors.lastname: Song
authors.affiliation: Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Yong Mee
authors.initials: YM
authors.lastname: Cho
authors.affiliation: Department of Urology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Bumsik
authors.initials: B
authors.lastname: Hong
authors.affiliation: Department of Urology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Jun Hyuk
authors.initials: JH
authors.lastname: Hong
authors.affiliation: Department of Urology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Hanjong
authors.initials: H
authors.lastname: Ahn
authors.affiliation: Department of Urology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Choung Soo
authors.initials: CS
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D015415:Biomarkers; D002292:Carcinoma, Renal Cell / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D041321:Chromosomes, Human, X / Q000737:chemistry*; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics*; D008207:Lymphatic Metastasis; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D012189:Retrospective Studies; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D015415:Biomarkers; C069203:TFE3 protein, human
keywords: Angiogenesis inducing agents; Genetic translocation; Renal cell carcinoma