A Case of Tuberous Sclerosis Complex with Lymphangioleiomyomatosis and Renal Cell Carcinoma

Lymphangioleiomyomatosis (LAM) is a rare disease affecting young women, which occurs sporadically or in patients with tuberous sclerosis complex (TSC). The main manifestations of TSC in the kidney include cysts and angiomyolipoma (AML). Although renal cell carcinoma (RCC) is not a manifestation of TSC, it has a 2–4% incidence in TSC patients. Furthermore, LAM is rare in patients with RCC. Herein, we present a case of a 40-year-old woman with LAM and RCC in the right kidney. We checked for mutations in the TSC1 and TSC2 genes from both blood and kidney lesions and found a heterozygous mutation of c.1717–30G> A in intron 16 of TSC2 gene. In TSC patients, the diagnosis of RCC is challenging because the cancer is rare, and it is often difficult to distinguish it from AML with conventional imaging techniques. Therefore, it is recommended that patients with TSC undergo renal imaging follow-ups annually for kidney masses.