Renal cell carcinoma associated with TFE3 gene fusion in an elderly woman

Urology. 2007 Sep;70(3):590.e11-2. doi: 10.1016/j.urology.2007.06.1096.

Abstract

We present a case report of a renal cell carcinoma with TFE3 overexpression (related to TFE3 gene fusion) in a 63-year-old woman. Such tumors have been reported predominantly in children and young adults, and to our knowledge there are only 2 such cases mentioned in the literature in patients older than ours. However, we believe that this tumor may be underdiagnosed in adults owing to its similarity to clear cell (conventional) carcinoma and in some cases to papillary renal carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma, Clear Cell / diagnosis
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / analysis
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
  • Carcinoma, Renal Cell / chemistry
  • Carcinoma, Renal Cell / diagnosis
  • Carcinoma, Renal Cell / genetics*
  • Diagnosis, Differential
  • Female
  • Humans
  • Incidental Findings
  • Intracellular Signaling Peptides and Proteins
  • Kidney Neoplasms / chemistry
  • Kidney Neoplasms / diagnosis
  • Kidney Neoplasms / genetics*
  • Middle Aged
  • Neoplasm Proteins / analysis
  • Neoplasm Proteins / genetics
  • Oncogene Proteins, Fusion / analysis
  • Oncogene Proteins, Fusion / genetics*
  • Translocation, Genetic*
  • Vimentin / analysis

Substances

  • ASPSCR1 protein, human
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Intracellular Signaling Peptides and Proteins
  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • TFE3 protein, human
  • Vimentin