Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation

[Background] Renal epithelioid angiomyolipomas (EAML) are rare tumors with aggressive behavior. EAML can be sporadic or develop within the tuberous sclerosis complex syndrome, where mutations of TSC1 or TSC2 genes (critical negative regulators of mTOR Complex 1) result in an increased activation of...

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Bibliographic Details
Authors: Espinosa-Montaño, Marta, Roldán-Romero, Juan María, Durán, Ignacio, Álava, Enrique de, Apellaniz-Ruiz, María, Cascón, Alberto, Garrigos, Carmen, Robledo, Mercedes, Rodríguez-Antona, Cristina
Format: article
Status:Published version
Publication Date:2018
Country:España
Institution:Consejo Superior de Investigaciones Científicas (CSIC)
Repository:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/180213
Online Access:http://hdl.handle.net/10261/180213
Access Level:Open access
Keyword:Renal epithelioid angiomyolipoma
Sirolimus
TSC2 mutation
mTOR pathway activation
Description
Summary:[Background] Renal epithelioid angiomyolipomas (EAML) are rare tumors with aggressive behavior. EAML can be sporadic or develop within the tuberous sclerosis complex syndrome, where mutations of TSC1 or TSC2 genes (critical negative regulators of mTOR Complex 1) result in an increased activation of mTOR pathway. Optimal EAML treatment, including mTOR inhibitors, remains undetermined.

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