ount, the histopathological or cytological diagnosis may indicate this rare tumor as part of the differential diagnosis, and further investigations using immunohistochemistry and/or immunocytochemistry against TFE3 for accurate diagnosis are warranted.

Cite this paper

TakujiTanaka,KuniakiHirai,FumimasaEtori,MasashiMatsuyama,NaokiWatanabe,HiromiKondo,MasayoshiTamaki,TatsuyaYamashita,ShihoYasue,MikaNoda,KunihiroShinoda,HisaoKomeda, (2016) Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Case Report with Immunohistochemical and Cytological Features. Open Journal of Pathology,06,19-25. doi: 10.4236/ojpathology.2016.61004


  1. 1. Hemesath, T.J., Steingrimsson, E., McGill, G., Hansen, M.J., Vaught, J., Hodgkinson, C.A., Arnheiter, H., Copeland, N.G., Jenkins, N.A. and Fisher, D.E. (1994) Microphthalmia, a Critical Factor in Melanocyte Development, Defines a Discrete Transcription Factor Family. Genes & Development, 8, 2770-2780.

  2. 2. Argani, P. (2015) MiT family Translocation Renal Cell Carcinoma. Seminars in Diagnostic Pathology, 32, 103-113.

  3. 3. Ramphal, R., Pappo, A., Zielenska, M., Grant, R. and Ngan, B.Y. (2006) Pediatric Renal Cell Carcinoma: Clinical, Pathologic, and Molecular Abnormalities Associated with the Members of the MiT Transcription Factor Family. American Journal of Clinical Pathology, 126, 349-364.

  4. 4. Argani, P. and Ladanyi, M. (2004) Renal Carcinomas Associated with Xp11. 2 Translocations/TFE3 Gene Fusions. In: Eble, J.N., Sauter, G., Epstein, J.I. and Sesterhenn, I.A., Eds., World Health Organization Classification of Tumours, IARC Press, Lyon, 37-38.

  5. 5. Tomlinson, G.E., Nisen, P.D., Timmons, C.F. and Schneider, N.R. (1991) Cytogenetics of a Renal Cell Carcinoma in a 17-Month-Old Child. Evidence for Xp11.2 as a Recurring Breakpoint. Cancer Genetics and Cytogenetics, 57, 11-17.

  6. 6. Armah, H.B. and Parwani, A.V. (2010) Xp11.2 Translocation Renal Cell Carcinoma. Archives of Pathology & Laboratory Medicine, 134, 124-129.

  7. 7. Kuroda, N., Mikami, S., Pan, C.C., Cohen, R.J., Hes, O., Michal, M., Nagashima, Y., Tanaka, Y., Inoue, K., Shuin, T. and Lee, G.H. (2012) Review of Renal Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions with Focus on Pathobiological Aspect. Histology and Histopathology, 27, 133-140.

  8. 8. Argani, P., Antonescu, C.R., Couturier, J., Fournet, J.C., Sciot, R., Debiec-Rychter, M., Hutchinson, B., Reuter, V.E., Boccon-Gibod, L., Timmons, C., Hafez, N. and 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). American Journal of Surgical Pathology, 26, 1553-1566.

  9. 9. Argani, P., Antonescu, C.R., Illei, P.B., Lui, M.Y., Timmons, C.F., Newbury, R., Reuter, V.E., Garvin, A.J., Perez-Atayde, A.R., Fletcher, J.A., Beckwith, J.B., Bridge, J.A. and Ladanyi, M. (2001) 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. The American Journal of Pathology, 159, 179-192.

  10. 10. Argani, P. and Ladanyi, M. (2005) Translocation Carcinomas of the Kidney. Clinics in Laboratory Medicine, 25, 363-378.

  11. 11. Sukov, W.R., Hodge, J.C., Lohse, C.M., Leibovich, B.C., Thompson, R.H., Pearce, K.E., Wiktor, A.E. and Cheville, J.C. (2012) TFE3 Rearrangements in Adult Renal Cell Carcinoma: Clinical and Pathologic Features with Outcome in a Large Series of Consecutively Treated Patients. American Journal of Surgical Pathology, 36, 663-670.

  12. 12. Komai, Y., Fujiwara, M., Fujii, Y., Mukai, H., Yonese, J., Kawakami, S., Yamamoto, S., Migita, T., Ishikawa, Y., Kurata, M., Nakamura, T. and Fukui, I. (2009) Adult Xp11 Translocation Renal Cell Carcinoma Diagnosed by Cytogenetics and Immunohistochemistry. Clinical Cancer Research, 15, 1170-1176.

  13. 13. Truong, L.D. and Shen, S.S. (2011) Immunohistochemical Diagnosis of Renal Neoplasms. Archives of Pathology & Laboratory Medicine, 135, 92-109.

  14. 14. Kuwamoto, S., Murai, Y., Endo, Y., Masago, T., Kuroda, N. and Horie, Y. (2014) Cytologic Features of Renal Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions: A Case Report with Voided and Catheterized Urine Cytology and a Literature Review. Acta Cytologica, 58, 406-412.

  15. 15. Bellmunt, J. and Dutcher, J. (2013) Targeted Therapies and the Treatment of Non-Clear Cell Renal Cell Carcinoma. Annals of Oncology, 24, 1730-1740.

  16. 16. Brassesco, M.S., Valera, E.T., Bonilha, T.A., Scrideli, C.A., Carvalho de Oliveira, J., Pezuk, J.A., Barros Silva, G.E., Costa, R.S. and Tone, L.G. (2011) Secondary PSF/TFE3-Associated Renal Cell Carcinoma in a Child Treated for Genitourinary Rhabdomyosarcoma. Cancer Genetics, 204, 108-110.

  17. 17. Srigley, J.R., Delahunt, B., Eble, J.N., Egevad, L., Epstein, J.I., Grignon, D., Hes, O., Moch, H., Montironi, R., Tickoo, S.K., Zhou, M. and Argani, P. (2013) The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia. American Journal of Surgical Pathology, 37, 1469-1489.

  18. 18. Kryvenko, O.N., Jorda, M., Argani, P. and Epstein, J.I. (2014) Diagnostic Approach to Eosinophilic Renal Neoplasms. Archives of Pathology & Laboratory Medicin, 138, 1531-1541.

  19. 19. Argani, P., Lal, P., Hutchinson, B., Lui, M.Y., Reuter, V.E. and Ladanyi, M. (2003) Aberrant Nuclear Immunoreactivity for TFE3 in Neoplasms with TFE3 Gene Fusions: A Sensitive and Specific Immunohistochemical Assay. American Journal of Surgical Pathology, 27, 750-761.

  20. 20. Barroca, H., Correia, C. and Castedo, S. (2008) Cytologic and Cytogenetic Diagnosis of Pediatric Renal Cell Carcinoma Associated with t(X;17). Acta Cytologica, 52, 384-386.

  21. 21. Mansouri, D., Dimet, S., Couanet, D., Terrier-Lacombe, M.J., Vasiliu, V., Khalifa, C., Suciu, V. and Vielh, P. (2006) Renal Cell Carcinoma with an Xp11.2 Translocation in a 16-Year-Old Girl: A Case Report with Cytological Features. Diagnostic Cytopathology, 34, 757-760.

  22. 22. Schinstine, M., Filie, A.C., Torres-Cabala, C., Abati, A., Linehan, W.M. and Merino, M. (2006) Fine-Needle Aspiration of a Xp11.2 Translocation/TFE3 Fusion Renal Cell Carcinoma Metastatic to the Lung: Report of a Case and Review of the Literature. Diagnostic Cytopathology, 34, 751-756.

  23. 23. Yamaguchi, T., Kuroda, N., Imamura, Y., Hes, O., Kawada, T. and Nakayama, K. (2009) Imprint Cytologic Features in Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion in an Adult: A Case Report. Acta Cytologica, 53, 693-697.

  24. 24. Kato, H., Kanematsu, M., Yokoi, S., Miwa, K., Horie, K., Deguchi, T. and Hirose, Y. (2011) Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: Radiological Findings Mimicking Papillary Subtype. Journal of Magnetic Resonance Imaging, 33, 217-220.

  25. 25. Kondo, T., Nakazawa, H., Sakai, F., Kuwata, T., Onitsuka, S., Hashimoto, Y. and Toma, H. (2004) Spoke-Wheel-Like Enhancement as an Important Imaging Finding of Chromophobe Cell Renal Carcinoma: A Retrospective Analysis on Computed Tomography and Magnetic Resonance Imaging Studies. International Journal of Urology, 11, 817-824.

  26. 26. Malouf, G.G., Camparo, P., Oudard, S., Schleiermacher, G., Theodore, C., Rustine, A., Dutcher, J., Billemont, B., Rixe, O., Bompas, E., Guillot, A., Boccon-Gibod, L., Couturier, J., Molinie, V. and Escudier, B. (2010) Targeted Agents in Metastatic Xp11 Translocation/TFE3 Gene Fusion Renal Cell Carcinoma (RCC): A Report from the Juvenile RCC Network. Annals of Oncology, 21, 1834-1838.


*Corresponding author.

Journal Menu >>