TFE3
MIM.314310 Xp11.22
TFE3, a member of the helix-loop-helix family of transcription factors, binds to the mu-E3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types.
Pathology
TFE3/ASPL gene fusion by t(X;17)(p11;q25) in juvenile renal cell carcinoma and alveolar soft part sarcoma (12769020)
References
Tsuda M, Davis IJ, Argani P, Shukla N, McGill GG, Nagai M, Saito T, Lae M, Fisher DE, Ladanyi M. TFE3 fusions activate MET signaling by transcriptional up-regulation, defining another class of tumors as candidates for therapeutic MET inhibition. Cancer Res. 2007 Feb 1;67(3):919-29. PMID: 17283122
Amin MB, Patel RM, Oliveira P, Cabrera R, Carneiro V, Preto M, Balzer B, Folpe AL. Alveolar soft-part sarcoma of the urinary bladder with urethral recurrence: a unique case with emphasis on differential diagnoses and diagnostic utility of an immunohistochemical panel including TFE3. Am J Surg Pathol. 2006 Oct;30(10):1322-5. PMID: 17001165
Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M. Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. Am J Surg Pathol. 2003 Jun;27(6):750-61. PMID: 12766578
Tonk V, Wilson KS, Timmons CF, Schneider NR, Tomlinson GE. Renal cell carcinoma with translocation (X;1). Further evidence for a cytogenetically defined subtype. Cancer Genet Cytogenet. 1995 May;81(1):72-5. PMID: 7773963
Tomlinson GE, Nisen PD, Timmons CF, Schneider NR. Cytogenetics of a renal cell carcinoma in a 17-month-old child. Evidence for Xp11.2 as a recurring breakpoint. Cancer Genet Cytogenet. 1991 Nov;57(1):11-7. PMID: 1684532