雙側腎血管肌脂肪瘤與結節性硬化症

許靖承陳鴻毅

基隆長庚醫院 外科部 泌尿科

Bilateral angiomyolipoma and tuberos sclerosis

Ching cheng Hsu, Hung-Yi Chen

Divisions of Urology, Department of Surgery, Keelung Chang-Gung Memorial Hospital

Purpose: Renal angiomyolipoma (AML) is a common renal manifestation in tuberous sclerosis complex (TSC), occurring in up to 80% of patients. TSC-associated AML typically presents at a younger age, tends to be bilateral and multifocal, and demonstrates a more rapid growth rate compared with sporadic AML.

Case summary: We present a 37-year-old male with TSC and bilateral renal AML who initially received everolimus in 2014 with favorable tumor shrinkage but was lost to follow-up. He presented again in 2024 with right AML rupture and underwent transarterial embolization (TAE), followed by re-initiation of everolimus therapy with partial radiologic response. Due to residual large tumor burden, robotic-assisted partial nephrectomy was subsequently performed in 2025.

Discussion: Management of renal AML depends on tumor size, symptoms, and risk of hemorrhage. TAE is effective for bleeding control but carries a high recurrence risk in TSC-associated AML. mTOR inhibitors remain first-line therapy for TSC-related AML ≥3 cm, showing significant tumor volume reduction and stabilization. Surgical intervention is reserved for refractory, suspicious, or high-risk cases. Long-term surveillance is mandatory due to lifelong recurrence risk.

Conclusions: This case highlights the importance of lifelong monitoring and individualized multimodal treatment—including mTOR inhibitors, TAE, and nephron-sparing surgery—in optimizing outcomes for TSC-associated AML.