TFE3

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
• alveolar soft part sarcoma (12769020)

 Fusion SFPQ/TFE3 gene in papillary renal cell carcinoma (9393982)

 A distinctive subset of PEComas harbors TFE3 gene fusions (20871214)

• Perivascular Epithelioid Cell Tumor With SFPQ/PSF-TFE3 Gene Fusion in a Patient With Advanced Neuroblastoma (19606011)

 Epithelioid hemangioendotheliomas with TFE3 gene translocations (26840265)

• YAP1-TFE3 fusion gene in a small subset (@<@5%) of epithelioid hemangioendothelioma (EHE)
• Epithelioid hemangioendothelioma (EHE) is a malignant endothelial neoplasm characterized by recurrent translocations involving chromosomal regions 1p36.3 and 3q25, resulting in the formation of a WWTR1-CAMTA1 fusion gene in approximately 90% of cases.
• A WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites. (21584898)

See also

 TFE3 rearrangement

Open references

 Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma. Antonescu CR, Le Loarer F, Mosquera JM, Sboner A, Zhang L, Chen CL, Chen HW, Pathan N, Krausz T, Dickson BC, Weinreb I, Rubin MA, Hameed M, Fletcher CD. Genes Chromosomes Cancer. 2013 Aug;52(8):775-84. doi : 10.1002/gcc.22073 PMID: 23737213 Free

 Epithelioid hemangioendotheliomas with TFE3 gene translocations are compossible with CAMTA1 gene rearrangements. Lee SJ, Yang WI, Chung WS, Kim SK. Oncotarget. 2016 Feb 16;7(7):7480-8. doi : 10.18632/oncotarget.7060 PMID: 26840265 (Free)

References

 Utilization of a TFE3 Break-apart FISH Assay in a Renal Tumor Consultation Service. Green WM, Yonescu R, Morsberger L, Morris K, Netto GJ, Epstein JI, Illei PB, Allaf M, Ladanyi M, Griffin CA, Argani P. Am J Surg Pathol. 2013 Aug;37(8):1150-1163. PMID: 23715164

 Validation of a TFE3 break-apart FISH assay for Xp11.2 translocation renal cell carcinomas. Mosquera JM, Dal Cin P, Mertz KD, Perner S, Davis IJ, Fisher DE, Rubin MA, Hirsch MS. Diagn Mol Pathol. 2011 Sep;20(3):129-37. PMID: 21817901

 A distinctive subset of PEComas harbors TFE3 gene fusions. Argani P, Aulmann S, Illei PB, Netto GJ, Ro J, Cho HY, Dogan S, Ladanyi M, Martignoni G, Goldblum JR, Weiss SW. Am J Surg Pathol. 2010 Oct;34(10):1395-406. PMID: 20871214

 Perivascular Epithelioid Cell Tumor With SFPQ/PSF-TFE3 Gene Fusion in a Patient With Advanced Neuroblastoma. Tanaka M, Kato K, Gomi K, Matsumoto M, Kudo H, Shinkai M, Ohama Y, Kigasawa H, Tanaka Y. Am J Surg Pathol. 2009 Jul 13. PMID: 19606011

 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