Kidney carcinoma associated with Xp11.2 translocation / TFE3 (ASPL-TFE3) gene fusion

Int Braz J Urol. 2005 May-Jun;31(3):251-4. doi: 10.1590/s1677-55382005000300009.

Abstract

We report the case of a 58-year old patient, showing a solid image in the right kidney, who underwent radical nephrectomy that revealed neoplasia, whose pathological study led to the diagnosis of kidney carcinoma associated with Xp11.2 translocation / TFE3 (ASPL-TFE3) gene fusion. The authors discuss aspects related to this lesion, such as frequency, pathogenesis, clinical presentation, histopathology and outcome, as observed in the literature.

Publication types

  • Case Reports

MeSH terms

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Chromosomes, Human, X / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Middle Aged
  • Transcription Factors / genetics*
  • Translocation, Genetic / genetics*

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • DNA-Binding Proteins
  • TFE3 protein, human
  • Transcription Factors