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CC BY 4.0 · Indian J Med Paediatr Oncol 2024; 45(02): 188-193
DOI: 10.1055/s-0043-57268
Case Series

Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature

Poorva Vias
1   Department of Radiotherapy & Oncology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
,
Shikha Goyal
1   Department of Radiotherapy & Oncology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
,
Renu Madan
1   Department of Radiotherapy & Oncology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
,
Nandita Kakkar
2   Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
,
Ridhi Sood
2   Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
,
Kannan Periasamy
1   Department of Radiotherapy & Oncology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
,
Rajender Kumar
3   Department of Nuclear Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India
› Author Affiliations
Funding None declared.
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Abstract

Patients with autosomal dominant polycystic kidney disease (ADPKD), especially those with renal failure, carry a higher risk of developing renal cell carcinoma (RCC) compared to the general population. Genetic mutations associated with ADPKD are known but a direct link associated with RCC is still controversial. We discuss the clinical course of two such patients. The first patient was diagnosed with ADPKD at the age of 10 years with an unreported tubulocystic RCC focus on his renal biopsy that was picked up on review 16 years later when he presented with vertebral metastases determined to have originated from the RCC. He was doing well on multikinase inhibitors till 4 years of diagnosis with metastatic disease when he succumbed to progressive disease after 3 lines of systemic therapy. The second patient was diagnosed with ADPKD in middle age and papillary RCC 3 years later. Within 3 months of cancer diagnosis, there was progression to metastatic disease and rapid decline despite systemic therapies. We surmise that the diagnosis of RCC may be missed in ADPKD till the advanced stages. Patients with ADPKD should be monitored regularly with imaging and biopsy if needed. Histology may be varied but once diagnosed, systemic therapies may help disease control.

Keywords

autosomal dominant polycystic kidney disease - tubulocystic renal cell carcinoma - papillary renal cell carcinoma - mTOR inhibitors - sunitinib

Ethics Approval and Consent to Participate

Written informed consent was taken from patients at the time of treatment planning for future use as long as name was not disclosed. All ethical principles according to Helsinki guidelines were followed.


Consent for Publication

Yes, written consent to participate and publish this information was taken from the patients during the treatment.


Availability of Data and Material

Data can be made available by authors on reasonable request.


Authors' Contributions

P.V. wrote the paper and collected the data. S.G. designed the work, planned the treatment of patient and follow-up, revised and approved the final manuscript. R.M. participated in clinical decision-making, helped in writing and revision of the paper. N.K. and R.S. did the histopathological examination, made the diagnosis, and helped with pathology details for the paper. K.P. and R.K. participated in clinical decisions, and reviewed the final manuscript. All the authors read and approved the final manuscript.


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Publication History

Article published online:
04 May 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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