Translocation carcinomas of the kidney

Clin Lab Med. 2005 Jun;25(2):363-78. doi: 10.1016/j.cll.2005.01.008.

Abstract

A significant proportion of RCCs of children and young adults bear specific chromosome translocations that result in gene fusions that involve members of the MiTF/TFE transcription factor family. These include the Xp11-translocation carcinomas, which bear TFE3 gene fusions, and the renal carcinomas with the t(6;11)(p21;q12), which bear an Alpha-TFEB gene fusion. Both types of translocation result in overexpression of the fusion gene products, such that nuclear labeling for TFE3 or TFEB by immunohistochemistry is a sensitive and specific marker of these respective tumor types. The clinical behavior of these neoplasms relative to conventional, adult-type renal carcinomas remains to be determined, and will be an important area of future investigation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Carcinoma, Renal Cell / genetics
  • Cell Cycle Proteins / genetics
  • DNA-Binding Proteins / genetics
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Kidney Neoplasms / genetics*
  • Neoplasm Proteins / genetics
  • Oncogene Proteins, Fusion / genetics
  • Transcription Factors / genetics
  • Translocation, Genetic*

Substances

  • ASPSCR1 protein, human
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Intracellular Signaling Peptides and Proteins
  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • PRCC protein, human
  • TFE3 protein, human
  • TFEB protein, human
  • Transcription Factors