Malignant perivascular epithelioid cell neoplasm (PEComa) of the urinary bladder with TFE3 gene rearrangement clinicopathologic, immunohistochemical, and molecular features

American Journal of Surgical Pathology

Volumn 37, Issue 10, 2013, Pages 1619-1626

  Williamson, Sean R ^a   Bunde, Paula J ^b   Montironi, Rodolfo ^d   Lopez Beltran, Antonio ^e   Zhang, Shaobo ^a   Wang, Mingsheng ^a   MacLennan, Gregory T ^c   Cheng, Liang ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b INDIANA UNIVERSITY HEALTH   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^e UNIVERSITY OF CÓRDOBA   (Spain)

Author keywords

Fluorescence in situ hybridization; Immunohistochemistry; Perivascular epithelioid cell neoplasm; TFE3 gene; Urinary bladder; Xp11.2

Indexed keywords

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

ARTICLE; BLADDER TUMOR; CASE REPORT; FATALITY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE REARRANGEMENT; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; METABOLISM; MIDDLE AGED; PATHOLOGY; PERIVASCULAR EPITHELIOID CELL TUMOR;

BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; FATAL OUTCOME; FEMALE; GENE REARRANGEMENT; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; MIDDLE AGED; PERIVASCULAR EPITHELIOID CELL NEOPLASMS; URINARY BLADDER NEOPLASMS;

EID: 84884510316     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e318293729d     Document Type: Article

References (59)

1. Cheng L, Lopez-Beltran A, Bostwick DG, eds. Bladder Pathology. Hoboken, NJ: Wiley-Blackwell; 2012.
2. Folpe AL, Kwiatkowski DJ. Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol. 2010;41:1-15.
3. Martignoni G, Pea M, Reghellin D, et al. PEComas: the past, the present and the future. Virchows Arch. 2008;452:119-132.
4. Bleeker JS, Quevedo JF, Folpe AL. Malignant perivascular epithelioid cell neoplasm: risk stratification and treatment strategies. Sarcoma. 2012;2012:541626.
5. Bonetti F, Martignoni G, Colato C, et al. Abdominopelvic sarcoma of perivascular epithelioid cells. Report of four cases in young women, one with tuberous sclerosis. Mod Pathol. 2001;14: 563-568.
6. 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.
7. 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.
8. Ohe C, Kuroda N, Hes O, et al. A renal epithelioid angiomyolipoma/ perivascular epithelioid cell tumor with TFE3 gene break visualized by FISH. Med Mol Morphol. 2012;45:234-237.
9. Lee SE, Choi YL, Cho J, et al. Ovarian perivascular epithelioid cell tumor not otherwise specified with transcription factor E3 gene rearrangement: a case report and review of the literature. Hum Pathol. 2012;43:1126-1130.
10. Lee M, Cho KJ, Yu C, et al. Perivascular epithelioid cell tumor of the sigmoid colon with transcription factor E3 expression. Ann Diagn Pathol. 2012;16:306-311.
11. Kuroda N, Goda M, Kazakov DV, et al. Perivascular epithelioid cell tumor of the nasal cavity with TFE3 expression. Pathol Int. 2009;59:769-770.
12. Malinowska I, Kwiatkowski DJ, Weiss S, et al. Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction. Am J Surg Pathol. 2012;36:783-784.
13. Righi A, Dimosthenous K, Rosai J. PEComa: another member of the MiT tumor family? Int J Surg Pathol. 2008;16:16-20.
14. Cho HY, Chung DH, Khurana H, et al. The role of TFE3 in PEComa. Histopathology. 2008;53:236-249.
15. Williamson SR, Eble JN, Cheng L. Molecular pathology of kidney tumors. In: Cheng L, Eble JN, eds. Molecular Surgical Pathology. New York: Springer; 2013:171-212.
16. 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.
17. Lopez-Beltran A, Scarpelli M, Montironi R, et al. 2004 WHO classification of the renal tumors of the adults. Eur Urol. 2006;49:798-805.
18. Argani P, Ladanyi M. Renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions. In: Eble JN, Sauter G, Epstein JI, et al, eds. Pathology and Genetics of Tumours of the Urinary System and Male Genital Organs. Lyon: IARC Press; 2004:37-38.
19. 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.
20. Ross H, Argani P. Xp11 translocation renal cell carcinoma. Pathology. 2010;42:369-373.
21. 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.
22. Dijkhuizen T, van den Berg E, Wilbrink M, et al. Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations. Genes Chromosomes Cancer. 1995;14:43-50.
23. Martignoni G, Pea M, Gobbo S, et al. Cathepsin-K immunoreactivity distinguishes MiTF/TFE family renal translocation carcinomas from other renal carcinomas. Mod Pathol. 2009;22:1016-1022.
24. 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.
25. 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.
26. 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.
27. 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.
28. 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.
29. 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.
30. Sukov WR, Cheville JC, Amin MB, et al. Perivascular epithelioid cell tumor (PEComa) of the urinary bladder: report of 3 cases and review of the literature. Am J Surg Pathol. 2009;33:304-308.
31. Martignoni G, Pea M, Reghellin D, et al. Perivascular epithelioid cell tumor (PEComa) in the genitourinary tract. Adv Anat Pathol. 2007;14:36-41.
32. Parfitt JR, Bella AJ, Wehrli BM, et al. Primary PEComa of the bladder treated with primary excision and adjuvant interferon-alpha immunotherapy: a case report. BMC Urol. 2006;6:20.
33. Pan CC, Jong YJ, Chai CY, et al. Comparative genomic hybridization study of perivascular epithelioid cell tumor: molecular genetic evidence of perivascular epithelioid cell tumor as a distinctive neoplasm. Hum Pathol. 2006;37:606-612.
34. Kalyanasundaram K, Parameswaran A, Mani R. Perivascular epithelioid tumor of urinary bladder and vagina. Ann Diagn Pathol. 2005;9:275-278.
35. Pan CC, Yu IT, Yang AH, et al. Clear cell myomelanocytic tumor of the urinary bladder. Am J Surg Pathol. 2003;27:689-692.
36. Pianezza ML, Slatnik J, Evans HJ. Clear cell myomelanocytic tumour: minimally invasive treatment of a rare bladder tumour. Can Urol Assoc J. 2008;2:230-234.
37. Weinreb I, Howarth D, Latta E, et al. Perivascular epithelioid cell neoplasms (PEComas): four malignant cases expanding the histopathological spectrum and a description of a unique finding. Virchows Arch. 2007;450:463-470.
38. Huang Y, Lu G, Quan J, et al. Primary perivascular epithelioid cell tumor of the bladder. Ann Diagn Pathol. 2011;15:427-430.
39. Williamson SR, Cheng L. Perivascular epithelioid cell tumor of the bladder. J Urol. 2011;185:1473-1474.
40. Lott S, Lopez-Beltran A, Maclennan GT, et al. Soft tissue tumors of the urinary bladder, Part I: myofibroblastic proliferations, benign neoplasms, and tumors of uncertain malignant potential. Hum Pathol. 2007;38:807-823.
41. Chan AW, Chan CK, Chiu Y, et al. Primary perivascular epithelioid cell tumour (PEComa) of the urinary bladder. Pathology. 2011; 43:746-749
42. Shringarpure SS, Thachil JV, Maya M. PEComa of the urinary bladder. Saudi J Kidney Dis Transpl. 2012;23:1032-1034.
43. Folpe AL, Mentzel T, Lehr HA, et al. Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. Am J Surg Pathol. 2005;29:1558-1575.
44. 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.
45. Mosquera JM, Dal Cin P, Mertz KD, et al. Validation of a TFE3 break-apart FISH assay for Xp11.2 translocation renal cell carcinomas. Diagn Mol Pathol. 2011;20:129-137.
46. Kim SH, Choi Y, Jeong HY, et al. Usefulness of a break-apart FISH assay in the diagnosis of Xp11.2 translocation renal cell carcinoma. Virchows Arch. 2011;459:299-306.
47. Rao Q, Williamson SR, Zhang S, et al. TFE3 break apart FISH has a higher sensitivity for Xp11.2 translocation associated renal cell carcinoma than TFE3 or cathepsin K immunohistochemical staining alone: expanding the morphologic spectrum. Am J Surg Pathol. 2013. (In press).
48. Patel RM, Downs-Kelly E, Weiss SW, et al. Dual-color, break-apart fluorescence in situ hybridization for EWS gene rearrangement distinguishes clear cell sarcoma of soft tissue from malignant melanoma. Mod Pathol. 2005;18:1585-1590.
49. Downs-Kelly E, Goldblum JR, Patel RM, et al. The utility of fluorescence in situ hybridization (FISH) in the diagnosis of myxoid soft tissue neoplasms. Am J Surg Pathol. 2008;32:8-13.
50. Cheng L, Zhang DY, Eble JN, eds. Molecular Genetic Pathology. 2nd ed. New York, NY: Springer; 2013.
51. Cheng L, Jones TD, McCarthy RP, et al. Molecular genetic evidence for a common clonal origin of urinary bladder small cell carcinoma and co-existing urothelial carcinoma. Am J Pathol. 2005;166: 1533-1539.
52. Cheng L, MacLennan GT, Zhang S, et al. Evidence for polyclonal origin of multifocal clear cell renal cell carcinoma. Clin Cancer Res. 2008;14:8087-8093.
53. Lott S, Lopez-Beltran A, Montironi R, et al. Soft tissue tumors of the urinary bladder Part II: malignant neoplasms. Hum Pathol. 2007;38:963-977.
54. Perrone T. PEComa versus EGIST. Am J Surg Pathol. 2009;33:1421.
55. Kim J, McCarthy SW, Thompson JF, et al. Cellular blue naevus involving the urinary bladder. Pathology. 2012;44:664-668.
56. Martignoni G, Bonetti F, Chilosi M, et al. Cathepsin K expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney. Mod Pathol. 2012;25:100-111.
57. Rao Q, Cheng L, Xia QY, et al. Cathepsin K expression in a wide spectrum of perivascular epithelioid cell neoplasms (PEComas): a clinicopathological study emphasizing extrarenal PEComas. Histopathology. 2013;62:642-650.
58. Martignoni G, Gobbo S, Camparo P, et al. Differential expression of cathepsin K in neoplasms harboring TFE3 gene fusions. Mod Pathol. 2011;24:1313-1319.
59. Zheng G, Martignoni G, Antonescu C, et al. A broad survey of cathepsin K immunoreactivity in human neoplasms. Am J Clin Pathol. 2013;139:151-159.