title: Adult Xp11 translocation renal cell carcinoma diagnosed by cytogenetics and immunohistochemistry.
abstract: OBJECTIVE
  To determine the incidence of Xp11 translocation renal cell carcinoma (RCC) in adult patients using cytogenetics and immunohistochemstry.
  
  
  METHODS
  Cytogenetic studies were prospectively done using tumor samples from 443 consecutive adult Japanese patients (ages 15-89 years) who underwent nephrectomy for RCC. TFE3 immunohistochemistry was done for cases in which cytogenetic results were not obtained. Clinicopathologic characteristics of Xp11 translocation RCC were examined.
  
  
  RESULTS
  Mitotic cells suitable for cytogenetic analysis were obtained in 244 tumor samples (55%); among these, we identified 4 cases (1.6%) of Xp11 translocation RCC. TFE3 immunohistochemistry identified 3 positive cases (1.5%) among the remaining 199 cases. The median age of the 7 patients was 41 years (range, 15-59 years), and 15% of RCC patients (4 of 26) who were younger than ages 45 years had this type of RCC. Of the four Xp11 translocation RCC patients whose karyotypes were determined, two had an ASPL-TFE3 gene fusion. Of these 2, 1 had pulmonary metastasis at presentation, and the other developed liver metastasis 12 months after nephrectomy and died of the disease. The remaining two patients had PRCC-TFE3 and PSF-TFE3 gene fusions, respectively. Both had nodal involvement but remained disease free for 3 and 5 years, respectively, after surgical resection of lymph node metastases. Of the 3 immunohistochemically diagnosed patients, 1 had nodal metastases at presentation and died 9 months after surgery.
  
  
  CONCLUSIONS
  This is the first report to determine the incidence of Xp11 translocation RCC in adult patients. We found that this disease is relatively common in young adults.
authors.affiliation: Department of Urology, The Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, Japan.
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Komai
authors.forename: Mutsunori
authors.initials: M
authors.lastname: Fujiwara
authors.forename: Yasuhisa
authors.initials: Y
authors.lastname: Fujii
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Mukai
authors.forename: Junji
authors.initials: J
authors.lastname: Yonese
authors.forename: Satoru
authors.initials: S
authors.lastname: Kawakami
authors.forename: Shinya
authors.initials: S
authors.lastname: Yamamoto
authors.forename: Toshiro
authors.initials: T
authors.lastname: Migita
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Ishikawa
authors.forename: Morito
authors.initials: M
authors.lastname: Kurata
authors.forename: Takuro
authors.initials: T
authors.lastname: Nakamura
authors.forename: Iwao
authors.initials: I
authors.lastname: Fukui
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000032:analysis*; D002292:Carcinoma, Renal Cell / Q000737:chemistry / Q000235:genetics* / Q000473:pathology; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007680:Kidney Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D011518:Proto-Oncogene Proteins / Q000235:genetics; D019859:Proto-Oncogene Proteins c-met; D017978:Receptors, Growth Factor / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D011518:Proto-Oncogene Proteins; D017978:Receptors, Growth Factor; C069203:TFE3 protein, human; C491743:MET protein, human; D019859:Proto-Oncogene Proteins c-met