Xp11 translocation renal cell carcinoma (RCC): Extended immunohistochemical profile emphasizing novel RCC markers

American Journal of Surgical Pathology

Volumn 34, Issue 9, 2010, Pages 1295-1303

  Argani, Pedram ^a,b   Hicks, Jessica ^a,b   De Marzo, Angelo M ^a,b   Albadine, Roula ^a   Illei, Peter B ^a,b   Ladanyi, Marc ^c   Reuter, Victor E ^c   Netto, George J ^a,b  

^a JOHNS HOPKINS HOSPITAL   (United States)

^b DEPARTMENT OF PATHOLOGY   (United States)

^c MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

biomarker; renal cell carcinoma; TFE3

Indexed keywords

BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; MAMMALIAN TARGET OF RAPAMYCIN; PROTEIN SERINE THREONINE KINASE; SIGNAL PEPTIDE; TFE3 PROTEIN, HUMAN; TUMOR MARKER;

ARTICLE; CHROMOSOME 11; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION REGULATION; GENE FUSION; GENE TRANSLOCATION; GENETICS; HUMAN; KIDNEY CARCINOMA; KIDNEY TUMOR; METABOLISM; PATHOLOGY; TISSUE MICROARRAY; X CHROMOSOME;

BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CARCINOMA, RENAL CELL; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, X; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENE EXPRESSION REGULATION, NEOPLASTIC; GENE FUSION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY NEOPLASMS; PROTEIN-SERINE-THREONINE KINASES; TISSUE ARRAY ANALYSIS; TRANSLOCATION, GENETIC; TUMOR MARKERS, BIOLOGICAL;

EID: 77956231444     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e3181e8ce5b     Document Type: Article

References (38)

1. Argani P, Antonescu CR, Couturier J, et al. PRCC-TFE3 renal carcinomas. Morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21). Am J Surg Pathol. 2002;26:1553-1566.
2. 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.
3. 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. Lyon, France: IARC; 2004:37-38.
4. Argani P, Lae M, Hutchinson B, et al. 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;29:230-240.
5. Argani P, Lal P, Hutchinson B, et al. Aberrant nuclear immuno-reactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. Am J Surg Pathol. 2003;27: 750-761.
6. Argani P, Lui MY, Couturier J, et al. Cloning of a novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23). Oncogene 2003;22:5374-5378.
7. 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.
8. Barroca H, Castedo S, Vieira J, et al. Altered expression of key cell cycle regulators in renal cell carcinoma associated with Xp11.2 translocation. Path Res Pract. 2009;205:466-472.
9. Bishop JA, Sharma R, Illei PB. Napsin A and thyroid transcription factor-1 expression in carcinomas of the lung, breast, pancreas, colon, kidney, thyroid, and malignant mesothelioma. Hum Pathol. 2010;41:20-25.
10. Camparo P, Vasiliu V, Molinie V, et al. Renal translocation carcinomas. clinicopathologic, immunohistochemical and gene expression profiling analysis of 31 cases with a review of the literature. Am J Surg Pathol. 2008;35:656-670.
11. Choi YD, Kim KS, Ryu S, et al. Claudin-7 is highly expressed in chromophobe renal cell carcinoma and renal oncocytoma. J Korean Med Sci. 2007;22:305-310.
12. Clark J, Lu Y-J, 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.
13. Daniel L, Lechevallier E, Giorgi R, et al. Pax-2 expression in adult renal tumors. Hum Pathol. 2001;32:282-287.
14. Di Cristofano C, Minervini A, Menicagli M, et al. Nuclear expression of hypoxia-inducible factor-1a in clear cell renal cell carcinoma is involved in tumor progression. Am J Surg Pathol. 2007;31:1875-1881.
15. Gupta R, Balzwer B, Picken M, et al. Diagnostic implications of transcription factor Pax2 protein and transmembrane enzyme complex carbonic anhydrase IX immunoreactivity in adult renal epithelial neoplasms. Am J Surg Pathol. 2009; 33:241-247.
16. Hocker-Muller J, Babaryka G, Schmid I, et al. Overexpression of cyclin D, D3, and p21 in an infantile renal carcinoma with Xp11.2 TFE3-gene fusion. Path Res Pract. 2008;204:589-597.
17. Hornsby CD, Cohen C, Amin MB, et al. Claudin-7 immuno-histochemistry in renal tumors. A candidate marker for chromo-phobe renal cell carcinoma identified by gene expression profiling. Arch Pathol Lab Med. 2007;131:1541-1546.
18. Huan C, Sashital D, Hailemariam T, et al. Renal carcinoma-associated transcription factors TFE3 and TFEB are leukemia inhibitory factor-responsive transcription activators of E-cadherin. J Biol Chem. 2005;280:30225-30235.
19. Itoi T, Yamana K, Bilim V, et al. Impact of frequent Bcl-2 expression on better prognosis in renal cell carcinoma patients. British Journal of Cancer. 2004;90:200-205.
20. Komai Y, Fujiwara M, Fujii Y, et al. Adult Xp11 translocation renal cell carcinoma diagnosed by cytogenetics and immunohisto-chemistry. Clin Cancer Res. 2009;15:1170-1176.
21. Kuehn A, Paner GP, Skinnider BF, et al. Expression analysis of kidney-specific cadherin in a wide spectrum of traditional and newly recognized renal epithelial neoplasms: diagnostic and histogenetic implications. Am J Surg Pathol. 2007;31:1528-1533.
22. Kuiper RP, Schepens M, Thijssen J, et al. Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution. Hum Mol Genet. 2003;12:1661-1669.
23. Lae M, Argani P, Olshen AB, et al. Global gene expression profiles of renal carcinomas with Xp11 translocations (TFE3 gene fusions) suggest a closer relationship to Alveolar Soft part Sarcoma than to Adult Type Renal Cell Carcinomas. Mod Pathol. 2004;17:163A. (abstract #682).
24. Lee CT, Genega EM, Hutchinson B, et al. Conventional (clear cell) renal carcinoma metastases have greater Bcl-2 expression than high risk primary tumors. Urol Oncol. 2003;21:179-184.
25. Martignoni G, Pea M, Gobbo S, et al. Cathepsin-K immuno-reactivity distinguishes MiTF/TFE family renal translocation carcinomas from other renal carcinomas. Mod Pathol. 2009;22: 1016-1022.
26. Mazal PR, Stichenwirth M, Koller A, et al. Expression of aquaporins and PAX-2 compared to CD10 and cytokeratin 7 in renal neoplasms: a tissue microarray study. Mod Pathol. 2005;18: 535-540.
27. McGill G, Horstmann M, Widlund H, et al. Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability. Cell. 2002;109:707-718.
28. Meyer PN, Clark JI, Flanigan RC, et al. Xp11.2 translocation renal cell carcinoma with very aggressive course in five adults. Am J Clin Pathol. 2007;128:70-79.
29. Nonaka D, Chiriboga L, Soslow R. Expression of Pax8 as a useful marker in distinguishing ovarian carcinomas from mammary carcinomas. Am J Surg Pathol. 2008;32:1566-1571.
30. Ozcan A, Zhai J, Hanilton C, et al. PAX-2 in the diagnosis of primary renal tumors. Am J Clin Pathol. 2009;131:393-404.
31. Pantuck AJ, Seligson DB, Klatte T, et al. Prognostic relevance of the mTOR pathway in renal cell carcinoma. Implications for molecular patient selection for targeted therapy. Cancer. 2007;109:2257-2267.
32. Ramphal R, Pappo A, Zielenska M, et al. Pediatric renal cell carcinoma. Clinical, pathologic and molecular abnormalities associated with the members of the MiT transcription factor family. Am J Clin Pathol. 2006;126:349-364.
33. Tickoo SK, Alden D, Olgac S, et al. Immunohistochemical expression of hypoxia inducible factor-1a and its downstream molecules in sarcomatoid renal cell carcinoma. J Urol. 2007;177: 1258-1263.
34. Togashi A, Katagiri T, Ashida S, et al. Hypoxia-Inducible protein 2 (HIG2), a novel diagnostic marker for renal cell carcinoma and potential target for molecular therapy. Cancer Res. 2005;65: 4817-4826.
35. Tong G-X, Weeden EM, Hamele-Bena D, et al. Expression of PAX8 in nephrogenic adenoma and clear cell adenocarcinoma of the lower urinary tract. Evidence of related histogenesis? Am J Surg Pathol. 2008;32:1380-1387.
36. Trzpis M, McLaughlin PM, de Leij LM, et al. Epithelial cell adhesion molecule: more than a carcinoma marker and adhesion molecule. Am J Pathol. 2007;171:386-395.
37. Wang HY, Mills SE. KIT and RCC are useful in distinguishing chromophobe renal cell carcinoma from the granular variant of clear cell renal cell carcinoma. Am J Surg Pathol. 2005;29: 640-646.
38. Went P, Dirnhofer S, Salvisberg T, et al. Expression of epithelial cell adhesion molecule (EpCam) in renal epithelial tumors. Am J Surg Pathol. 2005;29:83-88.