Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature
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 c...
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| Format: | Article |
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Thieme Medical and Scientific Publishers Pvt. Ltd.
2024-04-01
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| Series: | Indian Journal of Medical and Paediatric Oncology |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-57268 |
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| author | Poorva Vias Shikha Goyal Renu Madan Nandita Kakkar Ridhi Sood Kannan Periasamy Rajender Kumar |
| author_facet | Poorva Vias Shikha Goyal Renu Madan Nandita Kakkar Ridhi Sood Kannan Periasamy Rajender Kumar |
| author_sort | Poorva Vias |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-5a8c0f1548ca4eaf87c1d503ba07c40f |
| institution | Kabale University |
| issn | 0971-5851 0975-2129 |
| language | English |
| publishDate | 2024-04-01 |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| series | Indian Journal of Medical and Paediatric Oncology |
| spelling | doaj-art-5a8c0f1548ca4eaf87c1d503ba07c40f2025-08-20T03:44:39ZengThieme Medical and Scientific Publishers Pvt. Ltd.Indian Journal of Medical and Paediatric Oncology0971-58510975-21292024-04-01450218819310.1055/s-0043-57268Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of LiteraturePoorva Vias0Shikha Goyal1Renu Madan2Nandita Kakkar3Ridhi Sood4Kannan Periasamy5Rajender Kumar6Department of Radiotherapy & Oncology, Post Graduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Radiotherapy & Oncology, Post Graduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Radiotherapy & Oncology, Post Graduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Radiotherapy & Oncology, Post Graduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Nuclear Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, IndiaPatients 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-57268autosomal dominant polycystic kidney diseasetubulocystic renal cell carcinomapapillary renal cell carcinomamTOR inhibitorssunitinib |
| spellingShingle | Poorva Vias Shikha Goyal Renu Madan Nandita Kakkar Ridhi Sood Kannan Periasamy Rajender Kumar Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature Indian Journal of Medical and Paediatric Oncology autosomal dominant polycystic kidney disease tubulocystic renal cell carcinoma papillary renal cell carcinoma mTOR inhibitors sunitinib |
| title | Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature |
| title_full | Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature |
| title_fullStr | Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature |
| title_full_unstemmed | Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature |
| title_short | Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature |
| title_sort | renal cell carcinoma in the background of autosomal dominant polycystic kidney disease report of two cases and review of literature |
| topic | autosomal dominant polycystic kidney disease tubulocystic renal cell carcinoma papillary renal cell carcinoma mTOR inhibitors sunitinib |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-57268 |
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