title: Renal cell carcinoma associated with transcription factor E3 expression and Xp11.2 translocation: incidence, characteristics, and prognosis.
abstract: We studied the characteristics and prognosis of renal cell carcinoma (RCC) associated with Xp11.2 translocation and transcription factor E3 (TFE3) expression and determined the need for genetic analysis in routine diagnostics. Of 848 consecutive cases, 75 showed microscopic features suggestive of Xp11.2 translocation RCC or occurred in patients 40 years or younger. Of these cases, 17 (23%) showed strong nuclear TFE3 immunostaining, which was associated with more advanced tumors and inverse prognosis in univariate (P = .032) but not multivariate (P = .404) analysis. With fluorescence in situ hybridization and polymerase chain reaction, only 2 cases showed alterations of the X chromosome and the ASPL-TFE3 gene fusion, respectively. In our laboratory, the predictive value of TFE3 expression for the Xp11.2 translocation was 12%. Strong nuclear TFE3 expression is associated with metastatic spread and a poor prognosis. In our laboratory, TFE3 is not diagnostic for Xp11.2 translocation RCC. Diagnosis of Xp11.2 translocation RCC may be made only genetically.
authors.affiliation: Department of Urology, Medical University of Vienna, Austria.
authors.forename: Tobias
authors.initials: T
authors.lastname: Klatte
authors.forename: Berthold
authors.initials: B
authors.lastname: Streubel
authors.forename: Friedrich
authors.initials: F
authors.lastname: Wrba
authors.forename: Mesut
authors.initials: M
authors.lastname: Remzi
authors.forename: Barbara
authors.initials: B
authors.lastname: Krammer
authors.forename: Michela
authors.initials: M
authors.lastname: de Martino
authors.forename: Matthias
authors.initials: M
authors.lastname: Waldert
authors.forename: Michael
authors.initials: M
authors.lastname: Marberger
authors.forename: Martin
authors.initials: M
authors.lastname: Susani
authors.forename: Andrea
authors.initials: A
authors.lastname: Haitel
mesh_terms: D000328:Adult; D000368:Aged; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics* / Q000378:metabolism; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002880:Chromosomes, Human, Pair 11; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D012189:Retrospective Studies; D014178:Translocation, Genetic
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C069203:TFE3 protein, human