title: [Clinicopathologic and molecular genetic study of renal cell carcinoma occurring in teenagers].
abstract: OBJECTIVE
  To investigate clinicopathological features, molecular genetic characteristics, differential diagnoses and prognosis of renal cell carcinoma in teenagers.
  
  
  METHODS
  Microscopic and immunohistochemical features of 46 cases of renal cell carcinomas in teenagers were reviewed along with the clinical follow-up data. Loss of heterozygosity (LOH), analysis of von Hippel-Lindau (VHL) gene and screening for VHL gene mutations were performed in all of the tumors.
  
  
  RESULTS
  There were 19 Xp11.2 translocations/TFE3 gene fusions renal clear cell carcinomas (Xp11 RCCs), 9 chromophobe renal cell carcinomas (CCRCCs), 17 papillary renal cell carcinomas (PRCCs), and 1 unclassified renal cell carcinoma (RCC). All of the 19 Xp11.2 translocation RCCs showed a moderate to strong immunoreactivity for TFE, however, no TFEB expression was obtained. There were 4 histological patterns in the Xp11 RCC cases including: 8 tumors possessing a nested to papillary architecture resembling to the t(X;17) ASPL-TFE3 phenotype; 6 tumors possessing a morphologic feature like the t(X;1) PRCC-TFE3 phenotype; 4 cases morphologically resembling to clear cell RCC; and 1 Xp11 RCC case, with a special morphologic feature not searched yet in the literature, including a ground glass appearance of the nuclei accompanying occasionally with grooves on the nuclear surface; nucleoli inconspicuous with accumulation of abundant mucin-like substance in the stroma. VHL gene analysis revealed deletions at 3p25-26 in one clear cell RCC and one papillary type 2 RCC. The papillary type 2 RCC had also a family history of VHL disease, with a germline G→C mutation at a splicing site of position 553+5. There were no VHL mutations detected in the remaining 45 RCCs. Statistical analysis of tumor stage and outcome revealed that TFE+ RCCs of teen-agers were more frequently associated with a higher pT3/pT4 stage and a poorer outcome than that of the TFE-RCCs (P < 0.05).
  
  
  CONCLUSIONS
  RCCs of the teenagers have a different morphologic spectrum and genetic background from the RCCs seen in adults. Among RCCs of the teen-agers, Xp11.2 translocation tumors are the most common RCCs and have a poorer prognosis than that of the TFE-RCCs.
authors.affiliation: Department of Pathology, Nanjing University/Nanjing General Hospital of People's Liberation Army, China.
authors.forename: Qiu
authors.initials: Q
authors.lastname: Rao
authors.forename: Jing
authors.initials: J
authors.lastname: Zhou
authors.forename: Ru-song
authors.initials: RS
authors.lastname: Zhang
authors.forename: Heng-hui
authors.initials: HH
authors.lastname: Ma
authors.forename: Hang-bo
authors.initials: HB
authors.lastname: Zhou
authors.forename: Zhen-feng
authors.initials: ZF
authors.lastname: Lu
authors.forename: Xiao-jun
authors.initials: XJ
authors.lastname: Zhou
mesh_terms: D000293:Adolescent; D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics* / Q000378:metabolism; D002291:Carcinoma, Papillary / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D041321:Chromosomes, Human, X; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D050939:Gene Fusion; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D019656:Loss of Heterozygosity; D008297:Male; D009367:Neoplasm Staging; D015260:Neprilysin / Q000378:metabolism; D010641:Phenotype; D015996:Survival Rate; D014178:Translocation, Genetic; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000235:genetics
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C069203:TFE3 protein, human; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D015260:Neprilysin; C497446:VHL protein, human