title: Biological characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions.
abstract: OBJECTIVE
  To investigate the clinical features of pediatric Xp11.2 translocation renal cell carcinoma (RCC).
  
  
  METHODS
  A retrospective review of 22 cases over 35 years.
  
  
  RESULTS
  Xp11.2 translocation RCCs were identified in 13 boys and 9 girls with a median age of 10.5 years (range: 2.5-16 years). RCC presented with hematuria in 17, abdominal mass in 1, abdominal masses with hematuria in 2, abdominal pain with hematuria in 1, and as an incidental finding in 1 patient. Ten patients were classified stage I, 10 were stage III, and two were stage IV. Of the 10 patients with stage I RCCs, 3 patients with tumor measuring less than 7 cm had nephron-sparing surgery (NSS) and 17 patients underwent simple nephrectomy. A 15-cm tumor was incompletely removed in one patient and another patient with a 25-cm × 18-cm × 15-cm tumor had gross residual. Of the 15 patients followed up between 6 months and 35 years, 13 were still living and 2 had died after surgery.
  
  
  CONCLUSIONS
  Xp11.2 translocation RCC is the predominant form of pediatric RCC, associated with advanced stage at presentation. Nephrectomy is the usual treatment for RCC but NSS is an option for patients with tumors measuring<7 cm. Patients with N+M0 maintained a favorable prognosis following surgery alone.
authors.affiliation: Department of Urology, Beijing Children's Hospital of Capital Medical University, Beijing 100045, China.
authors.forename: Hong Cheng
authors.initials: HC
authors.lastname: Song
authors.affiliation: Department of Urology, Beijing Children's Hospital of Capital Medical University, Beijing 100045, China. Electronic address: Pro_sn@126.com.
authors.forename: Ning
authors.initials: N
authors.lastname: Sun
authors.affiliation: Department of Urology, Beijing Children's Hospital of Capital Medical University, Beijing 100045, China.
authors.forename: Wei Ping
authors.initials: WP
authors.lastname: Zhang
authors.affiliation: Department of Pathology, Beijing Children's Hospital of Capital Medical University, Beijing 100045, China.
authors.forename: LeJian
authors.initials: L
authors.lastname: He
authors.affiliation: Department of Pathology, Beijing Children's Hospital of Capital Medical University, Beijing 100045, China.
authors.forename: Libing
authors.initials: L
authors.lastname: Fu
authors.affiliation: Department of Urology, Beijing Children's Hospital of Capital Medical University, Beijing 100045, China.
authors.forename: ChengRu
authors.initials: C
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005260:Female; D005500:Follow-Up Studies; D050939:Gene Fusion; D005819:Genetic Markers; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality / Q000601:surgery; D008297:Male; D009392:Nephrectomy; D011379:Prognosis; D012189:Retrospective Studies; D014178:Translocation, Genetic
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D014408:Biomarkers, Tumor; D005819:Genetic Markers; C069203:TFE3 protein, human
keywords: Children; Renal cell carcinoma; TFE3 gene; Xp11.2 translocation