TFE3 expression in tumors of the microphthalmia-associated transcription factor (MiTF) family

Int J Surg Pathol. 2011 Feb;19(1):26-30. doi: 10.1177/1066896909352861. Epub 2010 Feb 16.

Abstract

The DNA-binding factor TFE3 is closely related to microphthalmia-associated transcription factor (MiTF) and is over-expressed in alveolar soft part sarcoma (ASPS) and select renal cell carcinomas. Reports of TFE3 expression in PEComa prompted investigation into TFE3 expression among other members of the putative MiTF group of neoplasms. The authors examined cases of PEComa (n = 6), conventional angiomyolipoma (AML; n = 22), metastatic melanoma (n = 16), and clear cell sarcoma (CCS; n = 9) for TFE3 expression. Nuclear immunostaining was observed in 74% (39/53) of cases, as follows: 5/6 PEComas, 18/22 AMLs, 10/16 metastatic melanomas, and 6/9 CCSs. However, with the exception of PEComas, compared with ASPS controls, TFE3 staining was significantly less intense in the tumors examined. These results illustrate that TFE3 immunoreactivity is detectable in other members of the MiTF family of neoplasms. For this reason, such neoplasms warrant consideration in the differential diagnosis with nuclear TFE3 immunoreactivity, particularly when staining is focal and less intense.

MeSH terms

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / metabolism*
  • Carcinoma, Renal Cell / metabolism*
  • Cell Nucleus / metabolism
  • Humans
  • Immunohistochemistry
  • Kidney Neoplasms / metabolism*
  • Liver Neoplasms / metabolism*
  • Melanoma / metabolism*
  • Microphthalmia-Associated Transcription Factor / metabolism*
  • Perivascular Epithelioid Cell Neoplasms / metabolism*
  • Retrospective Studies
  • Sarcoma, Alveolar Soft Part / metabolism*

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Microphthalmia-Associated Transcription Factor
  • TFE3 protein, human