Translocation renal cell carcinomas in adults: A single-institution experience

American Journal of Surgical Pathology

Volumn 36, Issue 5, 2012, Pages 654-662

  Zhong, Minghao ^a,d   De Angelo, Patricia ^d   Osborne, Lisa ^d   Paniz Mondolfi, Alberto E ^b   Geller, Matthew ^c   Yang, Youfeng ^e   Linehan, W Marston ^e   Merino, Maria J ^f   Cordon Cardo, Carlos ^a   Cai, Dongming ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

^c WINTHROP UNIVERSITY HOSPITAL   (United States)

^d RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^e Urologic Oncology Branch   (United States)

^f NATIONAL CANCER INSTITUTE   (United States)

Author keywords

TFE3; TFEB; translocation renal cell carcinoma

Indexed keywords

BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; TFE3 PROTEIN, HUMAN; TFEB PROTEIN, HUMAN; TUMOR MARKER;

ADULT; AGED; ARTICLE; CHROMOSOME ANALYSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TRANSLOCATION; GENETIC MARKER; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; KIDNEY CARCINOMA; KIDNEY TUMOR; MALE; METABOLISM; MIDDLE AGED; PATHOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TISSUE MICROARRAY;

ADULT; AGED; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CARCINOMA, RENAL CELL; CYTOGENETIC ANALYSIS; FEMALE; GENETIC MARKERS; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; KIDNEY NEOPLASMS; MALE; MIDDLE AGED; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TISSUE ARRAY ANALYSIS; TRANSLOCATION, GENETIC; TUMOR MARKERS, BIOLOGICAL;

EID: 84862804721     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e31824f24a6     Document Type: Article

References (34)

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. (Pubitemid 35387219)
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. (Pubitemid 33704203)
3. 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.
4. Argani P, Aulmann S, Karanjawala Z, et al. Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma. Am J Surg Pathol. 2009;33:609-619.
5. Argani P, Hicks J, De Marzo AM, et al. Xp11 translocation renal cell carcinoma (RCC): extended immunohistochemical profile emphasizing novel RCC markers. Am J Surg Pathol. 2010;34:1295-1303.
6. Argani P, Ladanyi M. Translocation carcinomas of the kidney. Clin Lab Med. 2005;25:363-378. (Pubitemid 40545824)
7. Argani P, Lae M, Ballard ET, et al. Translocation carcinomas of the kidney after chemotherapy in childhood. J Clin Oncol. 2006;24: 1529-1534. (Pubitemid 46638774)
8. 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, RTPCR, and DNA PCR. Am J Surg Pathol. 2005;29:230-240. (Pubitemid 40170642)
9. Argani P, Lal P, Hutchinson B, et al. Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitiveand specific immunohistochemical assay. Am J Surg Pathol. 2003;27:750-761. (Pubitemid 36617511)
10. Argani P, Lui MY, Couturier J, et al. A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23). Oncogene. 2003;22:5374-5378. (Pubitemid 37056101)
11. 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)
12. Armah HB, Parwani AV. Xp11.2 translocation renal cell carcinoma. Arch Pathol Lab Med. 2010;134:124-129.
13. Armah HB, Parwani AV, 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.
14. 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;32:656-670. (Pubitemid 351600831)
15. Carcao MD, Taylor GP, Greenberg ML, et al. Renal-cell carcinoma in children: a different disorder from its adult counterpart? Med Pediatr Oncol. 1998;31:153-158. (Pubitemid 28387912)
16. Chang IW, Huang HY, Sung MT. Melanotic Xp11 translocation renal cancer: a case with PSF-TFE3 gene fusion and upregulationof melanogenetic transcripts. Am J Surg Pathol. 2009;33: 1894-1901.
17. Clark J, Lu YJ, Sidhar SK, et al. Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cellcarcinoma. Oncogene. 1997;15:2233-2239. (Pubitemid 27493913)
18. Cronin JC, Wunderlich J, Loftus SK, et al. Frequent mutations in the MITF pathway in melanoma. Pigment Cell Melanoma Res. 2009;22:435-444.
19. Davis IJ, Hsi BL, Arroyo JD, et al. Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosometranslocation. Proc Natl Acad Sci USA. 2003;100:6051-6056. (Pubitemid 36576929)
20. 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)
21. Folpe AL, Mentzel T, Lehr HA, et al. Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologicstudy of 26 cases and review of the literature. Am J Surg Pathol. 2005;29:1558-1575.
22. Garraway LA, Widlund HR, Rubin MA, et al. Integrative genomic analyses identify MITF as a lineage survival oncogene amplified inmalignant melanoma. Nature. 2005;436:117-122. (Pubitemid 40966196)
23. Gobbo S, Eble JN, Maclennan GT, et al. Renal cell carcinomas with papillary architecture and clear cell components: the utility ofimmunohistochemical and cytogenetical analyses in differential diagnosis. Am J Surg Pathol. 2008;32:1780-1786.
24. Heimann P, El Housni H, Ogur G, et al. Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillaryrenal cell carcinomas. Cancer Res. 2001;61:4130-4135. (Pubitemid 32720981)
25. 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.
26. Ladanyi M, Lui MY, Antonescu CR, et al. The der(17)t(X;17) (p11;q25) of human alveolar soft part sarcoma fuses the TFE3transcription factor gene to ASPL, a novel gene at 17q25. Oncogene. 2001;20:48-57. (Pubitemid 32142337)
27. Levy C, Khaled M, Fisher DE. MITF: master regulator of melanocyte development and melanoma oncogene. Trends Mol Med. 2006;12:406-414. (Pubitemid 44291572)
28. Linehan WM, Bratslavsky G, Pinto PA, et al. Molecular diagnosis and therapy of kidney cancer. Annu Rev Med. 2010;61: 329-343.
29. Linehan WM, Zbar B. Focus on kidney cancer. Cancer Cell. 2004;6: 223-228. (Pubitemid 39222035)
30. Rehli M, Den Elzen N, Cassady AI, et al. Cloning and characterization of the murine genes for bHLH-ZIP transcription factors TFEC and TFEB reveal a common gene organization for all MiT subfamily members. Genomics. 1999;56:111-120. (Pubitemid 29107209)
31. Ross H, Argani P. Xp11 translocation renal cell carcinoma. Pathology. 2010;42:369-373.
32. Shipley JM, Birdsall S, Clark J, et al. Mapping the X chromosome breakpoint in two papillary renal cell carcinoma cell lines with a t(X;1)(p11.2;q21.2) and the first report of a female case. Cytogenet Cell Genet. 1995;71:280-284.
33. Tanaka M, Kato K, Gomi K, et al. Perivascular epithelioid cell tumor with SFPQ/PSF-TFE3 gene fusion in a patient with advanced neuroblastoma. Am J Surg Pathol. 2009;33:1416-1420.
34. 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.