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A renal epithelioid angiomyolipoma/perivascular epithelioid cell tumor with TFE3 gene break visualized by FISH

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We present a case of renal epithelioid angiomyolipoma (eAML)/perivascular epithelioid cell tumor (PEComa) with a TFE3 gene break visible by fluorescence in situ hybridization (FISH). Histologically, the tumor was composed of mainly epithelioid cells forming solid arrangements with small foci of spindle cells. In a small portion of the tumor, neoplastic cells displayed nuclear pleomorphism, such as polygonal and enlarged vesicular nuclei with prominent nucleoli. Marked vascularity was noticeable in the background, and perivascular hyaline sclerosis was also seen. Immunohistochemically, neoplastic cells were diffusely positive for α-smooth muscle actin and melanosome in the cytoplasm. Nuclei of many neoplastic cells were positive for TFE3. FISH analysis of the TFE3 gene break using the Poseidon TFE3 (Xp11) Break probe revealed positive results. Reverse transcriptase-polymerase chain reactions (RT-PCR) for ASPL/TFE3, PRCC/TFE3, CLTC/TFE3, PSF/TFE3, and NonO/TFE3 gene fusions all revealed negative results. This is the first reported case of renal eAML/PEComa with a TFE3 gene break, and it has unique histological findings as compared to previously reported TFE3 gene fusion-positive PEComas. Pathologists should recognize that PEComa with TFE3 gene fusion can arise even in the kidney.

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  1. Camparo P, Vasiliu V, Molinie V, Couturier J, Dykema KJ, Petillo D, Furge KA, Comperat EM, Lae M, Bouvier R, Buccon-Gibod L, Denoux Y, Ferlicot S, Forest E, Fromont G, Hintzy MC, Laghouati M, Sibony M, Tucker ML, Weber N, Teh BT, Vieillefond A (2008) Renal translocation carcinomas. Clinicopathologic, immunohistochemical, and gene expression profiling analysis of 31 cases with a review of the literature. Am J Surg Pathol 35:656–670

    Article  Google Scholar 

  2. Argani P, Aulmann S, Karanjawala Z, Fraser RB, Ladanyi M, Rodriguez MM (2009) Melanotic Xp11 translocation renal cancers. Am J Surg Pathol 33:609–619

    Article  PubMed  Google Scholar 

  3. Tanaka M, Kato K, Gomi K, Matsumoto M, Kudo H, Shinkai M, Ohama Y, Kigasawa H, Tanaka Y (2009) Perivascular epithelioid cell tumor with SFPQ/PSF-TFE3 gene fusion in a patient with advanced neuroblastoma. Am J Surg Pathol 33:1416–1420

    Article  PubMed  Google Scholar 

  4. Argani P, Aulmann S, Illei PB, Netto GJ, Ro J, Cho HY, Dogan S, Ladanyi M, Martignoni G, Goldblum JR, Weiss SW (2010) A distinctive subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol 34:1395–1406

    Article  PubMed  Google Scholar 

  5. Folpe AL (2002) Neoplasms with perivascular epithelioid cell differentiation (PEComas). In: Fletcher CDM, Unni KK, Mertens F (eds) World Health Organization classification of tumours. Pathology and genetics of tumours of soft tissue and bone. IARC Press, Lyon, pp 221–222

    Google Scholar 

  6. Williams A, Bartle G, Sumathi VP, Meis JM, Mangham DC, Grimer RJ, Kindblom LG (2011) Detection of ASPL/TFE3 fusion transcripts and the TFE3 antigen in formalin-fixed, paraffin-embedded tissue in a series of 18 cases of alveolar soft part sarcoma: useful diagnostic tools in cases with unusual histological features. Virchows Arch 458:291–300

    Article  CAS  PubMed  Google Scholar 

  7. Argani P, Antonescu CR, Couturier J, Sciot R, Debiec-Rychter M, Hutchinson B, Reuter VE, Boccon-Gibod L, Timmons C, Hafez N, Ladanyi M (2002) 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 36:1553–1566

    Article  Google Scholar 

  8. Argani P, Lui MY, Couturier J, Bouvier R, Fournet JC, Ladanyi M (2003) A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t (X;17)(p11.2;q23). Oncogene 22:5374–5378

    Article  CAS  PubMed  Google Scholar 

  9. Clark J, Lu YJ, Sidhar SK, Parker C, Gill S, Smedley D, Hamoudi R, Linehan WM, Shipley J, Cooper CS (1997) Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. Oncogene 15:2233–2239

    Article  CAS  PubMed  Google Scholar 

  10. Amin MB (2004) Epithelioid angiomyolipoma. In: Eble I, Sauter JN, Epstein G, Sesterhenn JI, Health IA (eds) World Health Organization classification of tumours. Pathology and genetics of tumours of the urinary system and male genital organs. IARC Press, Lyon, pp 68–69

    Google Scholar 

  11. Nese N, Martignoni G, Fletcher CD, Gupta R, Pan CC, Kim H, Ro JY, Hwang IS, Sato K, Bonetti F, Pea M, Amin MB, Hes O, Svec A, Kida M, Vankalakunti M, Berel D, Rogatko A, Gown AM, Amin MB (2011) Pure epithelioid PEComas (so-called epithelioid angiomyolipoma) of the kidney: a clinicopathologic study of 41 cases: detailed assessment of morphology and risk stratification. Am J Surg Pathol 35:161–176

    Article  PubMed  Google Scholar 

  12. Cho Y, Chung DH, Khurana H, Zhai QJ, Ro JT (2008) The role of TFE3 in PEComa. Histopathology (Oxf) 53:236–238

    Article  CAS  Google Scholar 

  13. Folpe AL, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW (2005) Perivascular epithelioid cell tumor of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. Am J Surg Pathol 29:1558–1575

    Article  PubMed  Google Scholar 

  14. Kato I, Inayama Y, Yamanaka S, Ohshiro H, Gomi K, Shirai S, Aoki I, Uemura H, Miyoshi Y, Kubota Y, Yao M, Nagashima Y (2009) Epithelioid angiomyolipoma of the kidney. Pathol Int 59:38–43

    Article  PubMed  Google Scholar 

  15. Kuroda N, Goda M, Kazakov DV, Hes O, Michal M, Lee GH (2009) Perivascular epithelioid cell tumor of the nasal cavity with TFE3 expression. Pathol Int 59:769–770

    Article  PubMed  Google Scholar 

  16. Righi A, Dimonsthenous K, Rosai J (2008) PEComa: another member of the MiT tumor family? Int J Surg Pathol 16:16–20

    Article  PubMed  Google Scholar 

  17. Argani P, Olgac S, Tickoo SK, Goldfischer M, Moch H, Chan DY, Eble JN, Bonsib SM, Jimeno M, Lloreta J, Billis A, Hicks J, De Marzo AM, Reuter VE, Ladanyi M (2007) Xp11.2 translocation renal cell carcinoma in adults: expanded clinical, pathologic, and genetic spectrum. Am J Surg Pathol 31:1149–1160

    Article  PubMed  Google Scholar 

  18. Meyer PN, Clark JI, Flanigan RC, Picken MM (2007) Xp11.2 translocation renal cell carcinoma with very aggressive course in five adults. Am J Clin Pathol 128:70–79

    Article  CAS  PubMed  Google Scholar 

  19. Faraji H, Nguyen BN, Mai KT (2009) Renal epithelioid angiomyolipoma: a study of six cases and a meta-analytic study. Development of criteria for screening the entity with prognostic significance. Histopathology (Oxf) 55:525–534

    Article  Google Scholar 

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Correspondence to Yoshiko Uemura.

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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 45, 234–237 (2012).

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