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Metastatic Bilateral Clear Cell Renal Carcinoma in Tuberous Sclerosis Complex: A Case Report

Received: 14 April 2025     Accepted: 24 April 2025     Published: 29 May 2025
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Abstract

Malignant tumors of the kidney, particularly clear cell renal carcinoma (CCRC), are fearful entities due to their aggressiveness and metastatic potential. They occasionally arise in predisposing hereditary syndromes such as Tuberous Sclerosis Complex (TSC). Herein, we present a case of A 33-year-old nulligravida woman presented with intermittent right-sided low back pain evolving for approximately 15 years. Imaging, including contrast-enhanced abdominal CT scan, revealed the presence of bilateral poorly defined heterogeneous solid-cystic masses with enhancement after contrast injection suggestive of bilateral renal tumors. Bilateral renal biopsy was performed, and histological examination revealed bilateral clear cell renal carcinoma (CCRC) with International Society of Urological Pathology (ISUP) nuclear grades of 2. Further staging with thoracic CT scan revealed bilateral pulmonary lymphangioleiomyomatosis (Figure 5) associated with multiple bone metastases. The tumor was classified as intermediate risk according to Heng prognostic criteria, and the case was discussed in a multidisciplinary tumor board meeting. The specific treatment of metastatic CCRC in the setting of TSC has not been reported in the literature to our knowledge. Subsequently, the patient was referred to medical oncology for initiation of tyrosine kinase inhibitor therapy. We reviewed the patient at 6 months, 12 months and 18 months and the evolution was satisfactory, she expressed no complaints and weighed 58kg.

Published in International Journal of Clinical Urology (Volume 9, Issue 1)
DOI 10.11648/j.ijcu.20250901.25
Page(s) 89-93
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), 2025. Published by Science Publishing Group

Keywords

Phakomatosis, Renal Cell Carcinoma, Tuberous Sclerosis Complex, Kidney Biopsy.

References
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[3] Maulaz P, Malinge MC, Farges D, Ingster O, Azzouzi AR, Bigot P. Prévalence de la sclérose tubéreuse de Bourneville chez des patients pris en charge pour un angiomyolipome rénal. Progrès en Urologie [Internet]. sept 2020 [cité 23 févr 2024]; 30(10): 500-6. Disponible sur:
[4] Nguyen HS, Doan NB, Gelsomino M, Shabani S, Awad AJ, Best B, et al. Subependymal Giant Cell Astrocytoma: A Surveillance, Epidemiology, and End Results Program–Based Analysis from 2004 to 2013. World Neurosurgery [Internet]. 1 oct 2018 [cité 23 avr 2025]; 118: e263-8. Disponible sur:
[5] de Vries PJ, Whittemore VH, Leclezio L, Byars AW, Dunn D, Ess KC, et al. Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist. Pediatric Neurology [Internet]. 1 janv 2015 [cité 23 avr 2025]; 52(1): 25-35. Disponible sur:
[6] Torra R, Badenas C, Darnell A, Camacho J, Aspinwall R, Harris P, et al. Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies. American Journal of Kidney Diseases [Internet]. 1 juin 1998 [cité 23 avr 2025]; 31(6): 1038-43. Disponible sur:
[7] Li Y, Inoki K, Vacratsis P, Guan KL. The p38 and MK2 Kinase Cascade Phosphorylates Tuberin, the Tuberous Sclerosis 2 Gene Product, and Enhances Its Interaction with 14-3-3*. Journal of Biological Chemistry [Internet]. 18 avr 2003 [cité 23 avr 2025]; 278(16): 13663-71. Disponible sur:
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[9] Bigot P, Boissier R, Khene ZE, Albigés L, Bernhard JC, Correas JM, et al. Recommandations françaises du Comité de cancérologie de l’AFU – Actualisation 2024–2026 : cancer du rein. Progrès en Urologie - FMC [Internet]. nov 2024 [cité 23 avr 2025]; 34(7): F333-93. Disponible sur:
[10] Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, De Vries PJ, et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatric Neurology [Internet]. oct 2021 [cité 24 févr 2024]; 123: 50-66. Disponible sur:
[11] Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, et al. Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs. The American Journal of Human Genetics [Internet]. 1 janv 2001 [cité 23 avr 2025]; 68(1): 64-80. Disponible sur:
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Cite This Article
  • APA Style

    Yaméogo, C. A. M. K. D., Kirakoya, B., Sawadogo, H., Ouédraogo, A., Traoré, Y. J. R. P., et al. (2025). Metastatic Bilateral Clear Cell Renal Carcinoma in Tuberous Sclerosis Complex: A Case Report. International Journal of Clinical Urology, 9(1), 89-93. https://doi.org/10.11648/j.ijcu.20250901.25

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    ACS Style

    Yaméogo, C. A. M. K. D.; Kirakoya, B.; Sawadogo, H.; Ouédraogo, A.; Traoré, Y. J. R. P., et al. Metastatic Bilateral Clear Cell Renal Carcinoma in Tuberous Sclerosis Complex: A Case Report. Int. J. Clin. Urol. 2025, 9(1), 89-93. doi: 10.11648/j.ijcu.20250901.25

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    AMA Style

    Yaméogo CAMKD, Kirakoya B, Sawadogo H, Ouédraogo A, Traoré YJRP, et al. Metastatic Bilateral Clear Cell Renal Carcinoma in Tuberous Sclerosis Complex: A Case Report. Int J Clin Urol. 2025;9(1):89-93. doi: 10.11648/j.ijcu.20250901.25

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  • @article{10.11648/j.ijcu.20250901.25,
      author = {Clotaire Alexis Marie Kiemdiba Donega Yaméogo and Brahima Kirakoya and Hassami Sawadogo and Abdoulaye Ouédraogo and Yannick Jean Rodrigue Pingdwendé Traoré and Abdoul-Karim Ouattara and Aïda Sandrine Ouédraogo and Fasnéwindé Aristide Kaboré},
      title = {Metastatic Bilateral Clear Cell Renal Carcinoma in Tuberous Sclerosis Complex: A Case Report
    },
      journal = {International Journal of Clinical Urology},
      volume = {9},
      number = {1},
      pages = {89-93},
      doi = {10.11648/j.ijcu.20250901.25},
      url = {https://doi.org/10.11648/j.ijcu.20250901.25},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcu.20250901.25},
      abstract = {Malignant tumors of the kidney, particularly clear cell renal carcinoma (CCRC), are fearful entities due to their aggressiveness and metastatic potential. They occasionally arise in predisposing hereditary syndromes such as Tuberous Sclerosis Complex (TSC). Herein, we present a case of A 33-year-old nulligravida woman presented with intermittent right-sided low back pain evolving for approximately 15 years. Imaging, including contrast-enhanced abdominal CT scan, revealed the presence of bilateral poorly defined heterogeneous solid-cystic masses with enhancement after contrast injection suggestive of bilateral renal tumors. Bilateral renal biopsy was performed, and histological examination revealed bilateral clear cell renal carcinoma (CCRC) with International Society of Urological Pathology (ISUP) nuclear grades of 2. Further staging with thoracic CT scan revealed bilateral pulmonary lymphangioleiomyomatosis (Figure 5) associated with multiple bone metastases. The tumor was classified as intermediate risk according to Heng prognostic criteria, and the case was discussed in a multidisciplinary tumor board meeting. The specific treatment of metastatic CCRC in the setting of TSC has not been reported in the literature to our knowledge. Subsequently, the patient was referred to medical oncology for initiation of tyrosine kinase inhibitor therapy. We reviewed the patient at 6 months, 12 months and 18 months and the evolution was satisfactory, she expressed no complaints and weighed 58kg.
    },
     year = {2025}
    }
    

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    T1  - Metastatic Bilateral Clear Cell Renal Carcinoma in Tuberous Sclerosis Complex: A Case Report
    
    AU  - Clotaire Alexis Marie Kiemdiba Donega Yaméogo
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    AU  - Yannick Jean Rodrigue Pingdwendé Traoré
    AU  - Abdoul-Karim Ouattara
    AU  - Aïda Sandrine Ouédraogo
    AU  - Fasnéwindé Aristide Kaboré
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    T2  - International Journal of Clinical Urology
    JF  - International Journal of Clinical Urology
    JO  - International Journal of Clinical Urology
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    AB  - Malignant tumors of the kidney, particularly clear cell renal carcinoma (CCRC), are fearful entities due to their aggressiveness and metastatic potential. They occasionally arise in predisposing hereditary syndromes such as Tuberous Sclerosis Complex (TSC). Herein, we present a case of A 33-year-old nulligravida woman presented with intermittent right-sided low back pain evolving for approximately 15 years. Imaging, including contrast-enhanced abdominal CT scan, revealed the presence of bilateral poorly defined heterogeneous solid-cystic masses with enhancement after contrast injection suggestive of bilateral renal tumors. Bilateral renal biopsy was performed, and histological examination revealed bilateral clear cell renal carcinoma (CCRC) with International Society of Urological Pathology (ISUP) nuclear grades of 2. Further staging with thoracic CT scan revealed bilateral pulmonary lymphangioleiomyomatosis (Figure 5) associated with multiple bone metastases. The tumor was classified as intermediate risk according to Heng prognostic criteria, and the case was discussed in a multidisciplinary tumor board meeting. The specific treatment of metastatic CCRC in the setting of TSC has not been reported in the literature to our knowledge. Subsequently, the patient was referred to medical oncology for initiation of tyrosine kinase inhibitor therapy. We reviewed the patient at 6 months, 12 months and 18 months and the evolution was satisfactory, she expressed no complaints and weighed 58kg.
    
    VL  - 9
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Author Information
  • Division of Urology, Yalgado Ouédraogo University Teaching Hospital, Ouagadougou, Burkina Faso

  • Division of Urology, Yalgado Ouédraogo University Teaching Hospital, Ouagadougou, Burkina Faso

  • Division of Urology, Yalgado Ouédraogo University Teaching Hospital, Ouagadougou, Burkina Faso

  • Division of Urology, Yalgado Ouédraogo University Teaching Hospital, Ouagadougou, Burkina Faso

  • Division of Urology, Yalgado Ouédraogo University Teaching Hospital, Ouagadougou, Burkina Faso

  • Division of Urology, Yalgado Ouédraogo University Teaching Hospital, Ouagadougou, Burkina Faso

  • Division of Pathology, Yalgado Ouédraogo University Teaching Hospital, Ouagadougou, Burkina Faso

  • Division of Urology, Yalgado Ouédraogo University Teaching Hospital, Ouagadougou, Burkina Faso

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