Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month...

Area of Science:

• Oncology
• Genetics
• Pharmacology

Background:

• Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign neoplasms.
• Dysregulation of the mammalian target of rapamycin (mTOR) pathway is a key mechanism in TSC.
• TSC-associated renal angiomyolipoma (AML) is a common manifestation requiring effective treatment.

Purpose of the Study:

• To evaluate the efficacy of continuous low-dose everolimus in treating TSC-associated renal AML.
• To assess the impact of everolimus on renal AML volume reduction over 48 months.
• To explore the correlation between serum everolimus levels and treatment response.

Main Methods:

• Eleven patients with TSC-AML received oral everolimus, starting at 2.5 mg/day and increasing to 5.0 mg/day.
• Renal AML volume was monitored using MRI or CT scans at baseline and at 12, 24, 36, and 48 months.
• Patients were stratified into two groups based on serum everolimus levels (<8 ng/mL and >8 ng/mL).

Main Results:

• Everolimus therapy led to significant shrinkage of renal AML volume after 48 months.
• Higher serum everolimus levels (Group II) demonstrated significantly greater AML volume reduction compared to lower levels (Group I).
• Response rates were 50% in Group I and 100% in Group II, with statistically significant differences observed at multiple time points.

Conclusions:

• Continuous low-dose everolimus (2.5-5 mg daily) is effective in reducing TSC-associated renal AML volume.
• This therapeutic approach appears to minimize adverse effects and potentially reduce medical costs.
• Everolimus represents a promising treatment option for managing TSC-AML.