Abstract
BackgroundTo evaluate the efficacy and safety of everolimus, a mTOR inhibitor, on invasive malignant renal epithelioid angiomyolipoma (EAML).Materials and MethodsFrom Oct 2014 to May 2019, we collected data from seven patients with a definite (clinical and pathological) diagnosis of EAML received everolimus in our hospital. Targeted sequence capture array technique with next-generation of high throughput sequencing (NGS) were performed to detect mutations of TSC1/2 genes. All patients had received surgery and everolimus. The clinical efficacy and safety of the therapy were evaluated.ResultsMutations of TSC1 and TSC2 were detected in two and three patients though targeted sequence capture array technique with NGS, respectively. Among seven patients, three had missense mutations, one had nonsense mutation, and one had the large fragment deletion mutation. Five patients accompanied with tuberous sclerosis complex (TSC) were identified. All patients were administered 10mg everolimus once daily, the treatment duration lasted for 3 to 28 months. The objective response was assessed 3 months later, five partial response, two stable disease (SD), the mean greatest tumor diameter of all patients decreased from 9.6 to 5.2cm. Six patients stayed SD and one patient died during follow up. Patients accompanying with TSC had better responses to everolimus compared with non-TSC.ConclusionThe mTOR inhibitor can be an effective treatment for patients with invasive malignant renal EAML. Patients with TSC may benefit more from the therapy.
Highlights
Angiomyolipoma (AML) is one of the most common benign solid tumors in the kidney [1]
We described our experience of the comprehensive therapy including surgery and everolimus in seven patients with invasive malignant renal epithelioid angiomyolipoma (EAML)
Five patients firstly presented with symptom of low back pain and other two with renal tumor identified by ultrasound during physical examination, and one of those patients accompanied with hematuria
Summary
Angiomyolipoma (AML) is one of the most common benign solid tumors in the kidney [1]. It is composed of different proportions of fat, blood vessels, and smooth muscle [2]. Epithelioid angiomyolipoma (EAML), is an uncommon subtype of renal AML, has been defined as a mesenchymal neoplasm derived from perivascular epithelioid cells [3, 4]. Unlike typical AMLs, these lesions are usually predominantly epithelioid and demonstrate little or no macroscopic fat [5]. It was reported that patients with EAML were significantly younger compared to AML [4]. To evaluate the efficacy and safety of everolimus, a mTOR inhibitor, on invasive malignant renal epithelioid angiomyolipoma (EAML)
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