Clear Cell Carcinoma in Tuberous Sclerosis Complex: Case Report and Review of the Literature

BACKGROUND: Tuberous sclerosis is a rare autosomal dominant genetic disorder caused by a mutation in either the TSC1 or TSC2 genes, with a global incidence ranging from 1 in every 6,000 to 10,000 newborns. Its pathophysiological mechanism is not fully understood; however, it is known that the TSC1 and TSC2 genes encode the proteins hamartin and tuberin, which form a complex that regulates mTOR, considered a key pathway in controlling cell growth. Clinical manifestations include cutaneous, neurological, cardiac, and renal abnormalities, among which the development of benign and/or malignant renal tumors stands out—particularly angiomyolipoma or clear cell renal carcinoma.

CLINICAL CASE: A 31-year-old male patient presented to the emergency department with generalized abdominal pain (VAS 8/10) radiating to the right iliac fossa, unresponsive to analgesics, and accompanied by changes in bowel habits, fever, and a 20-kilogram weight loss over one month. A diagnostic work-up was performed, documenting a right renal tumor.

CONCLUSIONS: Tuberous Sclerosis Complex (TSC) is known to predispose individuals to the formation of benign tumors in any organ of the body, with corresponding clinical consequences. However, the development of clear cell renal carcinoma is a rare finding, as most renal tumors in these patients tend to be angiomyolipomas, which are benign in the vast majority of cases.