Abstract：Objective： To study the feasibility and safety of Everolimus in the patients with invasive renal epithelioid angiomyolipoma (EAML). Methods： From Oct. 2014 to Oct. 2017, we retrospectively analyze the clinical data of 5 cases of invasive EAML given Everolimus, and next-generation sequencing (NGS) was performed to investigate the gene mutation of TSC. All patients received surgery and Everolimus treatment. The feasibility and safety were evaluated. Results： Pathogenicity TSC2 mutation was found in 3 cases and TSC1 mutation in one case by NGS, and all of the mutations were missense; the rest one had a nonpathogenic point mutation in TSC1 gene. Four patients were diagnosed as tuberous sclerosis complex (TSC) by clinical syndrome or gene examination. All patients received Everolimus (10 mg every day for 3 to 16 months). Four patients achieved partial response (PR) and one patient obtained stable disease (SD) after three-month treatment. The average max diameter of tumor was decreased from 8.5 cm to 5.2 cm. Follow-up time was 3 to 20 months. Four patients were SD, and one patient had progressed after treatment for 16 months. Patients associated with TSC had better response to Everolimus. Conclusions： For patients with invasive renal EAML which cannot receive radical tumorectomy or has distant metastasis, Everolimus may have good clinical efficacy if TSC diagnosis is made simultaneously.
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