Malignant Epithelioid Angiomyolipoma in the Kidney and Liver of a Patient with Pulmonary Lymphangioleiomyomatosis: Lack of Response to Sirolimus

Abstract

A 26-year-old woman with lymphoangioleiomyomatosis (LAM)

Tumor Response to Temsirolimus for Epithelioid Angiomyolipoma and Novel Mutation of <i>SMARCB1/INI1</i> Tumor Suppressor Gene

“…Some reports suggested that mTOR inhibitors were effective in EAML [13]- [15]. On the contrary, others reported that mTOR inhibitors were not effective in EAML [16] [17]. The present case of EAML showed initially significant response to temsirolimus but rapidly progressed after cessation of temsirolimus therapy.…”

Renal angiomyolipoma: a radiological classification and update on recent developments in diagnosis and management

“…Although there are few reports of angiomyolipomas in patients with LAM not associated with TSC, they are typically smaller, less frequently bilateral, and less prone to bleeding than those found in patients with TSC [11]. While one study reported an epithelioid angiomyolipoma in LAM [93], to our knowledge, an angiomyolipoma with epithelial cysts has not been reported in a patient with LAM not associated with TSC. The European Respiratory Society guidelines recommend that patients with unilateral angiomyolipomas, no clinical features of TSC, and no pulmonary symptoms, should be evaluated for LAM by undergoing HRCT of the chest [18].…”

Fatal Malignant Metastastic Epithelioid Angiomyolipoma Presenting in a Young Woman: Case Report and Review of the Literature

“…Higa et al reported a poor clinical response with rapid tumor growth after initiating a patient on sirolimus 15 . This result along with the poor clinical response from the patient presented in this report, lead one to postulate that inhibiting the mTOR pathway may at times only provide mild relief it at all in the progression of aggressive malignant EAML.…”