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

Brendan C Dickson1, John S Brooks, Theresa L Pasha

  • 1Pennsylvania Hospital, Philadelphia, PA, USA.

International Journal of Surgical Pathology
|February 19, 2010
PubMed

Insights

TFE3 protein expression is detectable in various tumors, including PEComa, angiomyolipoma, melanoma, and clear cell sarcoma. This finding is important for diagnosing these MiTF family neoplasms, especially when TFE3 staining is weak.

Area of Science:

  • Oncology
  • Molecular Biology
  • Pathology

Background:

  • The transcription factor TFE3 is associated with alveolar soft part sarcoma (ASPS) and certain renal cell carcinomas.
  • TFE3 expression has been reported in PEComa, suggesting a potential role in other neoplasms within the microphthalmia-associated transcription factor (MiTF) family.

Purpose of the Study:

  • To investigate the expression patterns of TFE3 in a spectrum of MiTF family neoplasms.
  • To evaluate the utility of TFE3 as a diagnostic marker in PEComa, angiomyolipoma (AML), metastatic melanoma, and clear cell sarcoma (CCS).

Main Methods:

  • Immunohistochemical analysis was performed to detect nuclear TFE3 expression.
  • Tumor samples included PEComa (n=6), AML (n=22), metastatic melanoma (n=16), and CCS (n=9).
  • Staining intensity was compared to ASPS controls.

Main Results:

  • Nuclear TFE3 immunoreactivity was detected in 74% (39/53) of the examined cases.
  • Positive staining was observed in PEComas (5/6), AMLs (18/22), metastatic melanomas (10/16), and CCSs (6/9).
  • TFE3 staining intensity was significantly lower in AML, melanoma, and CCS compared to ASPS, except in PEComas.

Conclusions:

  • TFE3 is expressed in various members of the MiTF family of neoplasms beyond ASPS.
  • The presence of nuclear TFE3 immunoreactivity, particularly when focal and less intense, should prompt consideration of these tumors in the differential diagnosis.

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