TFEB
MIM.600744 6p21
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Molecular biology
TFEB/MALAT1 fusion gene by t(6;11)(p21;q13) in
- TFEB-associated renal cell carcinoma (15644781, 12719541, 12837690)
- HMB45+ renal epithelial tumor (11395386)
See also
References
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
Argani, P.; Hawkins, A.; Griffin, C. A.; Goldstein, J. D.; Haas, M.; Beckwith, J. B.; Mankinen, C. B.; Perlman, E. J. : 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. Path. 158: 2089-2096, 2001. PubMed ID : 11395386
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