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A Case Report of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE-3 Gene Fusion

Received: 19 July 2021     Accepted: 13 September 2021     Published: 23 September 2021
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Abstract

Background: Renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusion is characterized by the gene fusions between the TFE3, which is located on the chromosome Xp11.2 and a variety of fusion partners. It is a rare renal cancer, which usually has no specific clinical manifestations. The diagnosis mainly depends on imaging, histopathology, and immunohistochemical characteristics. In adults, the disease has a high degree of malignancy. Surgery is the preferred and radical cure for this type of kidney neoplasms. Objective: To further improve the understanding of renal cell carcinoma related to Xp11.2 translocation/TFE-3 gene fusion. Methods: A case of Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma was reviewed, and a systematic review of relevant literature was conducted to summarize and analyze the diagnosis and treatment progress of Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma. Results: Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma is a relatively rare renal malignant tumor. At present, its early diagnosis is still difficult, most of which are found to be advanced, and radiotherapy and chemotherapy are basically ineffective. Surgery is the main treatment method. Conclusion: For Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma, early diagnosis and early treatment are still the main methods to judge the prognosis, and the long-term prognostic effect still needs long-term follow-up.

Published in International Journal of Clinical Urology (Volume 5, Issue 2)
DOI 10.11648/j.ijcu.20210502.17
Page(s) 88-90
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2021. Published by Science Publishing Group

Keywords

Xp11.2 Translocation/TFE-3 Gene, Kidney Cancer, Diagnosis and Treatment

References
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[2] Loprz-Beltran A, Scarpelli M, Montironi R, et al. 2004 WHO classification of the renal tumors of the adults [J] Eur Urol, 2006, 49 (5): 798-805.
[3] Qiu Rao, Bing Guan and Zhou XJ: Xp11.2 translocation renal cell carcinomas have a poorer prognosis than non-Xp11.2 translocation carcinomas in children and young adults: a meta-analysis [J]. Int J Surg Pathol, 2010, 18 (6): 458-464.
[4] Srigley JR, Delahunt B. Uncommon and recently described renal carcinomas [J]. Mod Pathol, 2009, 22 Suppl 2: S2-s23.
[5] Verhoest G, Veillard D, Guillé F, et al. Relationship between age at diagnosis and clinicopathologic features of renal cell carcinoma [J]. Eur Urol, 2007, 51 (5): 1298-1304.
[6] Ellati RT, Abukhiran I, Alqasem K, et al: Clinicopathologic features of translocation renal cell carcinoma [J]. Clin Genitourin Cancer, 2017, 15 (1): 112-116.
[7] Rao Q, Williamson SR, Zhang S, et al. TFE3 break-apart FISH has a higher sensitivity for Xp11.2 translocation-associated renal cell carcinoma compared with TFE3 or cathepsin K immunohistochemical staining alone: expanding the morphologic spectrum [J]. Am J Surg Pathol, 2013, 37 (6): 804-815.
[8] Armah HB, Parwani AV. Xp11.2 translocation renal cell carcinoma. Arch Pathol Lab Med, 2010, 134 (1): 124-9.
[9] Gandhi JS, Malik F, Amin MB, et al. MiT family translocation renal cell carcinomas: A 15th anniversary update [J]. Histol Histopathol, 2020, 35; 125-136. DOI: 10.14670/HH-18-159.
[10] He J, Gan W, Liu S, et al. Dynamic computed lomographic adult renal cell carcinoma asscociated with Xp11.2 translocation/tfe3 gene fusions: comparison with clear cell cell renal cell carcinoma [J]. J Comput Assist Tomogr, 2015, 39 (5): 730-736.
[11] Song HC, Sun N, Zhang WP, et al. Biological characteristics of pediatric renal cell arcinoma associated with Xp11.2 translocations/TFE3 gene fusions [J]. J Pediatr Surg, 2014, 49 (4): 539-542.
[12] Kakoki K, Miyata Y, Mochizuki Y, et al. Long-term treatment with sequential molecular targeted therapy for Xp11.2 translocation renal cell carcinoma: A case report and review of the literature [J]. Clin Genitourin Cancer, 2017, 15 (3): e503-e506.
[13] Sudour-Bonnange H, Leroy X, Chauvet MP, et al. Cutaneous metastases during an aggressive course of Xp11.2 translocation renal cell carcinoma in a teenager [J]. Pediatr Blood Cancer, 2014, 61 (9): 1698-1700.
[14] Zhang Linlin, Cai Wen, Huang Jiwei, etc., Clinical, pathological features and prognosis analysis of 25 adult Xp11.2 translocation/TFE3 gene fusion-related renal cancer patients. International Journal of Urology. 2020, 40 (06).
[15] Klatte T, Streubel B, Wrba F, et al. Renal cell carcinoma associated with transcription factor E3 expression and Xp11.2 translocation: Incidence, characteristics, and prognosis [J]. Am J Clin Pathol, 2012, 137 (5): 761-768.
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  • APA Style

    Sanhua Yan, Jianli Xu, Guangyao Li, Xinlong Gen, Yazhou Xue. (2021). A Case Report of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE-3 Gene Fusion. International Journal of Clinical Urology, 5(2), 88-90. https://doi.org/10.11648/j.ijcu.20210502.17

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    ACS Style

    Sanhua Yan; Jianli Xu; Guangyao Li; Xinlong Gen; Yazhou Xue. A Case Report of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE-3 Gene Fusion. Int. J. Clin. Urol. 2021, 5(2), 88-90. doi: 10.11648/j.ijcu.20210502.17

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    AMA Style

    Sanhua Yan, Jianli Xu, Guangyao Li, Xinlong Gen, Yazhou Xue. A Case Report of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE-3 Gene Fusion. Int J Clin Urol. 2021;5(2):88-90. doi: 10.11648/j.ijcu.20210502.17

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  • @article{10.11648/j.ijcu.20210502.17,
      author = {Sanhua Yan and Jianli Xu and Guangyao Li and Xinlong Gen and Yazhou Xue},
      title = {A Case Report of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE-3 Gene Fusion},
      journal = {International Journal of Clinical Urology},
      volume = {5},
      number = {2},
      pages = {88-90},
      doi = {10.11648/j.ijcu.20210502.17},
      url = {https://doi.org/10.11648/j.ijcu.20210502.17},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcu.20210502.17},
      abstract = {Background: Renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusion is characterized by the gene fusions between the TFE3, which is located on the chromosome Xp11.2 and a variety of fusion partners. It is a rare renal cancer, which usually has no specific clinical manifestations. The diagnosis mainly depends on imaging, histopathology, and immunohistochemical characteristics. In adults, the disease has a high degree of malignancy. Surgery is the preferred and radical cure for this type of kidney neoplasms. Objective: To further improve the understanding of renal cell carcinoma related to Xp11.2 translocation/TFE-3 gene fusion. Methods: A case of Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma was reviewed, and a systematic review of relevant literature was conducted to summarize and analyze the diagnosis and treatment progress of Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma. Results: Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma is a relatively rare renal malignant tumor. At present, its early diagnosis is still difficult, most of which are found to be advanced, and radiotherapy and chemotherapy are basically ineffective. Surgery is the main treatment method. Conclusion: For Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma, early diagnosis and early treatment are still the main methods to judge the prognosis, and the long-term prognostic effect still needs long-term follow-up.},
     year = {2021}
    }
    

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  • TY  - JOUR
    T1  - A Case Report of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE-3 Gene Fusion
    AU  - Sanhua Yan
    AU  - Jianli Xu
    AU  - Guangyao Li
    AU  - Xinlong Gen
    AU  - Yazhou Xue
    Y1  - 2021/09/23
    PY  - 2021
    N1  - https://doi.org/10.11648/j.ijcu.20210502.17
    DO  - 10.11648/j.ijcu.20210502.17
    T2  - International Journal of Clinical Urology
    JF  - International Journal of Clinical Urology
    JO  - International Journal of Clinical Urology
    SP  - 88
    EP  - 90
    PB  - Science Publishing Group
    SN  - 2640-1355
    UR  - https://doi.org/10.11648/j.ijcu.20210502.17
    AB  - Background: Renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusion is characterized by the gene fusions between the TFE3, which is located on the chromosome Xp11.2 and a variety of fusion partners. It is a rare renal cancer, which usually has no specific clinical manifestations. The diagnosis mainly depends on imaging, histopathology, and immunohistochemical characteristics. In adults, the disease has a high degree of malignancy. Surgery is the preferred and radical cure for this type of kidney neoplasms. Objective: To further improve the understanding of renal cell carcinoma related to Xp11.2 translocation/TFE-3 gene fusion. Methods: A case of Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma was reviewed, and a systematic review of relevant literature was conducted to summarize and analyze the diagnosis and treatment progress of Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma. Results: Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma is a relatively rare renal malignant tumor. At present, its early diagnosis is still difficult, most of which are found to be advanced, and radiotherapy and chemotherapy are basically ineffective. Surgery is the main treatment method. Conclusion: For Xp11.2 translocation/TFE-3 gene fusion-related renal cell carcinoma, early diagnosis and early treatment are still the main methods to judge the prognosis, and the long-term prognostic effect still needs long-term follow-up.
    VL  - 5
    IS  - 2
    ER  - 

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Author Information
  • Department of Urology, Linfen Central Hospital Affiliated to Changzhi Medical College, Linfen, China

  • Department of Urology, Linfen Central Hospital Affiliated to Changzhi Medical College, Linfen, China

  • Department of Urology, Linfen Central Hospital Affiliated to Changzhi Medical College, Linfen, China

  • Department of Urology, Linfen Central Hospital Affiliated to Changzhi Medical College, Linfen, China

  • Department of Urology, Linfen Central Hospital Affiliated to Changzhi Medical College, Linfen, China

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