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t(6;11)(p21;q13)

Tuesday 26 June 2007

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

Tumors

- TFEB-associated renal cell carcinoma (RCC)

  • in children and young adults
  • in adults (#17285572#)

- TFEB-associated HMB45+ renal cell carcinoma (RCC)

Molecular biology

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

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#