Human pathology

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TFE3

MIM.314310 Xp11.22

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TFE3 positivity in pediatric renal cell carcinoma TFE3 positivity in pediatric renal cell carcinoma TFE3 positivity in pediatric renal cell carcinoma

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