TFE3

Transcription factor E3 (TFE3) is a factor with helix-loop-helix structure, involved in various life activities such as cell differentiation, metabolic regulation, and immune activation. TFE3 gene is located in region 1, band 1, subband 2 of the X chromosome short arm (Xp11.2). Some research found that Xp11.2 translocation can lead to TFE3 gene breaking and fusion with promoters of other genes, leading to abnormal expression of TFE3, and then inducing excessive cell proliferation and carcinogenesis. Therefore, TFE3 has become a specific biomarker for diagnosing tumors associated with Xp11.2 translocations/TFE3 gene fusions. For example, TFE3 is often used in combination with CK7, Pax-8, Vimentin, and other antibodies for the differential diagnosis of Xp11.2 translocated renal carcinoma. Meanwhile, ASPL-TFE3 fusion gene is commonly present in alveolar soft part sarcoma (ASPS), which can promote cancer cell proliferation and tumor angiogenesis. This indicates that TFE3 has important medical value in the diagnosis and prognosis of ASPS. In addition, TFE3 gene rearrangement can occur in some perivascular epithelioid cell tumors.