[Renal cell carcinoma associated with tuberous sclerosis: a case report]

Area of Science:

• Oncology
• Nephrology
• Genetics

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of benign tumors in various organs.
• Renal angiomyolipomas are common in TSC patients, but renal cell carcinoma (RCC) is a rare complication.
• This report focuses on a unique case of RCC in a patient with TSC.

Observation:

• An 18-year-old female with a history of TSC presented with a large left renal mass.
• Imaging revealed bilateral renal tumors, initially suspected to be angiomyolipomas.
• The patient underwent left nephrectomy due to the tumor's size.

Findings:

• Histopathological examination of the resected left kidney revealed renal cell carcinoma with spindle cell components.
• This contrasts with the typical benign angiomyolipomas seen in TSC.
• Literature review identified a limited number of malignant renal tumors, including RCC, associated with TSC.

Implications:

• This case underscores the importance of considering malignant renal neoplasms in TSC patients, even when angiomyolipomas are suspected.
• Early detection and appropriate management of renal tumors in TSC are crucial.
• Further research is needed to understand the oncogenesis of RCC in the context of TSC.