Mammalian target of rapamycin inhibitor and transarterial embolization for treatment of tuberous sclerosis complex patients with renal angiomyolipoma

Abstract

Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that results in multiorgan hamartomas. Patients with TSC also frequently have renal angiomyolipomas, which are rare but benign renal tumors. However, the main causes of mortality in these patients are angiomyolipoma-related chronic kidney disease and acute tumor hemorrhage. Angiomyolipomas are mostly treated in our hospital using mammalian target of rapamycin (mTOR) inhibitor therapy or transarterial embolization (TAE). This study was undertaken to evaluate and compare the short-term outcomes of a combined therapy of mTOR inhibitor and TAE in patients with TSC-associated angiomyolipoma. Materials and Methods: This was a retrospective observational study based on collected data obtained from chart reviews. The single-center data set covered patients diagnosed, treated, and followed up from September 10, 2008, to March 17, 2016, at a specialist center. Patients with TSC-associated angiomyolipoma treated with monotherapy or combined treatment of mTOR inhibitor and TAE were included in this study. We compared the tumor size with image studies in the baseline and follow-up periods in both groups. Results: In total, 15 patients (3 males and 12 females) were included; 8 patients underwent mTOR inhibitor monotherapy and 7 received the combined mTOR inhibitor and TAE therapy. The mean patient age was 37.7 (17–72) years. The maximal diameters of renal angiomyolipomas ranged from 2 to 20.9 (10.2 ± 5.4) cm for all patients at the time of treatment intervention. During an average follow-up duration of 22 (2–56) months, the mean size of the angiomyolipomas decreased from 9.3 ± 5.6 to 8.5 ± 5.3 cm in the monotherapy group and 11.5 ± 5.4–10.0 ± 5.8 cm in the patients in the combined therapy (P = 0.014). Conclusions: In comparison with m-TOR inhibitor monotherapy, TAE combined with mTOR inhibitor therapy allows management of tumor bleeding with acceptable complications, and it also statistically reduces the tumor size in patients with TSC-associated renal angiomyolipomas.