TFEB-associated renal cell carcinoma

A small group of renal cell carcinoma (RCC), occurring in children and young adults, is characterized by t(6;11)(p21;q13).

Cytogenetics

 t(6;11)(p21.1;q12) (11395386)

Molecular biology

 TFEB/MALAT1 fusion gene by t(6;11)(p21;q13)

• TFEB at 11q12 (MIM.600744)
• MALAT1 at 6p21 (MIM.607924)

See also

 Oncobase
 TFEB-associated renal epithelial tumors

• TFEB-associated HMB45+ renal cell tumors

References

 Molecular Confirmation of t(6;11)(p21;q12) Renal Cell Carcinoma in Archival Paraffin-embedded Material Using a Break-apart TFEB FISH Assay Expands its Clinicopathologic Spectrum. Argani P, Yonescu R, Morsberger L, Morris K, Netto GJ, Smith N, Gonzalez N, Illei PB, Ladanyi M, Griffin CA. Am J Surg Pathol. 2012 Aug 13. PMID: 22892601

 Renal Cell Carcinomas With t(6;11)(p21;q12): A Clinicopathologic Study Emphasizing Unusual Morphology, Novel Alpha-TFEB Gene Fusion Point, Immunobiomarkers, and Ultrastructural Features, As Well As Detection of the Gene Fusion by Fluorescence In Situ Hybridization. Rao Q, Liu B, Cheng L, Zhu Y, Shi QL, Wu B, Jiang SJ, Wang Y, Wang X, Yu B, Zhang RS, Ma HH, Lu ZF, Tu P, Wang JD, Zhou XJ. Am J Surg Pathol. 2012 Sep;36(9):1327-38. PMID: 22895266

 Diverse fusion patterns and heterogeneous clinicopathologic features of renal cell carcinoma with t(6;11) translocation. Inamura K, Fujiwara M, Togashi Y, Nomura K, Mukai H, Fujii Y, Yamamoto S, Yonese J, Fukui I, Ishikawa Y. Am J Surg Pathol. 2012 Jan;36(1):35-42. PMID: 22173116

 Pecciarini L, Cangi MG, Lo Cunsolo C, Macri’ E, Dal Cin E, Martignoni G, Doglioni C. Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma of an adult patient. Genes Chromosomes Cancer. 2007 May;46(5):419-26. PMID: 17285572

 Davis, I. J.; Hsi, B.-L.; Arroyo, J. D.; Vargas, S. O.; Yeh, Y. A.; Motyckova, G.; Valencia, P.; Perez-Atayde, A. R.; Argani, P.; Ladanyi, M.; Fletcher, J. A.; Fisher, D. E. : Cloning of an alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation. Proc. Nat. Acad. Sci. 100: 6051-6056, 2003. PubMed ID : 12719541

 Kuiper, R. P.; Schepens, M.; Thijssen, J.; van Asseldonk, M.; van den Berg, E.; Bridge, J.; Schuuring, E.; Schoenmakers, E. F. P. M.; van Kessel, A. G. : Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution. Hum. Molec. Genet. 12: 1661-1669, 2003. PubMed ID : 12837690

 Argani P, Lae M, Hutchinson B, Reuter VE, Collins MH, Perentesis J, Tomaszewski JE, Brooks JS, Acs G, Bridge JA, Vargas SO, Davis IJ, Fisher DE, Ladanyi M. Renal carcinomas with the t(6;11)(p21;q12): clinicopathologic features and demonstration of the specific alpha-TFEB gene fusion by immunohistochemistry, RT-PCR, and DNA PCR. Am J Surg Pathol. 2005 Feb;29(2):230-40. PMID: 15644781

 Bruder E, Passera O, Harms D, Leuschner I, Ladanyi M, Argani P, Eble JN, Struckmann K, Schraml P, Moch H. Morphologic and Molecular Characterization of Renal Cell Carcinoma in Children and Young Adults. Am J Surg Pathol. 2004 Sep;28(9):1117-1132. PMID: 15316311

 Davis IJ, Hsi BL, Arroyo JD, Vargas SO, Yeh YA, Motyckova G, Valencia P, Perez-Atayde AR, Argani P, Ladanyi M, Fletcher JA, Fisher DE. Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation. Proc Natl Acad Sci U S A. 2003 May 13;100(10):6051-6. Epub 2003 Apr 28. PMID: 12719541

 Argani P, Hawkins A, Griffin CA, Goldstein JD, Haas M, Beckwith JB, Mankinen CB, Perlman EJ. A distinctive pediatric renal neoplasm characterized by epithelioid morphology, basement membrane production, focal HMB45 immunoreactivity, and t(6;11)(p21.1;q12) chromosome translocation. Am J Pathol. 2001 Jun;158(6):2089-96. PMID: 11395386