Molecular heterogeneity of TFE3 activation in renal cell carcinomas

Modern Pathology

Volumn 25, Issue 2, 2012, Pages 308-315

  MacHer Goeppinger, Stephan ^a,b   Roth, Wilfried ^a,b   Wagener, Nina ^a   Hohenfellner, Markus ^a   Penzel, Roland ^a   Haferkamp, Axel ^c   Schirmacher, Peter ^a   Aulmann, Sebastian ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c GOETHE UNIVERSITY   (Germany)

Author keywords

FISH; kidney; prognosis; renal cell carcinoma; TFE3; Xp11

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TFE3; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CHROMOSOME TRANSLOCATION 11; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE ACTIVATION; GENE AMPLIFICATION; GENE FUSION; GENE IDENTIFICATION; GENE OVEREXPRESSION; GENETIC HETEROGENEITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KIDNEY CARCINOMA; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MULTIVARIATE ANALYSIS; OUTCOME ASSESSMENT; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CARCINOMA, RENAL CELL; FEMALE; HUMANS; KAPLAN-MEIER ESTIMATE; KIDNEY NEOPLASMS; MALE; MIDDLE AGED; NEOPLASM GRADING; NEOPLASM STAGING; PROGNOSIS; PROPORTIONAL HAZARDS MODELS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TISSUE ARRAY ANALYSIS; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 84856534480     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2011.169     Document Type: Article

References (24)

1. Argani P, Ladanyi M. Renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions. In: Eble JN, Sauter G, Epstein J, et al., (eds). Pathology and Genetics of Tumors of the Urinary System & Male Genital Organs. IARC: Lyon, France, 2004, pp 37-38.
2. Argani P, Ladanyi M. Distinctive neoplasms characterised by specific chromosomal translocations comprise a significant proportion of paediatric renal cell carcinomas. Pathology 2003;35:492-498. (Pubitemid 38041284)
3. de Jong B, Molenaar IM, Leeuw JA, et al. Cytogenetics of a renal adenocarcinoma in a 2-year-old child. Cancer Genet Cytogenet 1986;21:165-169. (Pubitemid 16163323)
4. Clark J, Lu YJ, Sidhar SK, et al. Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. Oncogene 1997;15: 2233-2239. (Pubitemid 27493913)
5. Argani P, Antonescu CR, Illei PB, et al. Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents. Am J Pathol 2001;159:179-192. (Pubitemid 33704203)
6. Argani P, Lui MY, Couturier J, et al. A novel CLTCTFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23). Oncogene 2003;22:5374-5378. (Pubitemid 37056101)
7. Armah H, Parwani A, Surti U, et al. Xp11.2 translocation renal cell carcinoma occurring during pregnancy with a novel translocation involving chromosome 19: a case report with review of the literature. Diagn Pathol 2009;4:15.
8. Garraway LA, Widlund HR, Rubin MA, et al. Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma. Nature 2005;436:117-122. (Pubitemid 40966196)
9. Davis IJ, Kim JJ, Ozsolak F, et al. Oncogenic MITF dysregulation in clear cell sarcoma: defining the MiT family of human cancers. Cancer Cell 2006;9: 473-484. (Pubitemid 43832189)
10. Ladanyi M, Lui MY, Antonescu CR, et al. The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Oncogene 2001;20: 48-57. (Pubitemid 32142337)
11. Argani P, Aulmann S, Illei PB, et al. A distinctive subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol 2010;34:1395-1406.
12. Armah HB, Parwani AV. Renal cell carcinoma in a 33-year-old male with an unusual morphology and an aggressive clinical course: possible Xp11.2 translocation. Pathology 2008;40:306-308. (Pubitemid 351563919)
13. Malouf GG, Camparo P, Molinié V, et al. Transcription factor E3 and transcription factor EB renal cell carcinomas: clinical features, biological behavior and prognostic factors. J Urol 2011;185:24-29.
14. Koie T, Yoneyama T, Hashimoto Y, et al. An aggressive course of Xp11 translocation renal cell carcinoma in a 28-year-old man. Int J Urol 2009;16:333-335.
15. Macher-Goeppinger S, Aulmann S, Wagener N, et al. Decoy receptor 3 is a prognostic factor in renal cell cancer. Neoplasia 2008;10:1049-1056.
16. Macher-Goeppinger S, Aulmann S, Tagscherer KE, et al. Prognostic value of tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) and TRAIL receptors in renal cell cancer. Clin Cancer Res 2009;15: 650-659.
17. Aulmann S, Longerich T, Schirmacher P, et al. Detection of the ASPSCR1-TFE3 gene fusion in paraffin-embedded alveolar soft part sarcomas. Histopathology 2007;50:881-886. (Pubitemid 46850067)
18. Komai Y, Fujiwara M, Fujii Y, et al. Adult xp11 translocation renal cell carcinoma diagnosed by cytogenetics and immunohistochemistry. Clin Cancer Res 2009;15:1170-1176.
19. Argani P, Olgac S, Tickoo SK, et al. Xp11 translocation renal cell carcinoma in adults: expanded clinical, pathologic, and genetic spectrum. Am J Surg Pathol 2007;31:1149-1160. (Pubitemid 47207116)
20. Argani P, Lal P, Hutchinson B, et al. Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. Am J Surg Pathol 2003;27:750-761. (Pubitemid 36617511)
21. Zhong M, De Angelo P, Osborne L, et al. Dual-color, break-apart FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of Xp11 translocation renal cell carcinoma and alveolar soft part sarcoma. Am J Surg Pathol 2010;34:757-766.
22. Hong S, Oh H, Valera VA, et al. Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization. PLoS ONE 2010;5:e15793.
23. Tsuda M, Davis IJ, Argani P, et al. TFE3 fusions activate MET signaling by transcriptional up-regulation, defining another class of tumors as candidates for therapeutic MET inhibition. Cancer Res 2007;67:919-929.
24. Bagai R, Fan W, Ma PC. ARQ-197, an oral smallmolecule inhibitor of c-Met for the treatment of solid tumors. IDrugs 2010;13:404-414.