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

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

Abstract 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 activat...

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Bibliographic Details
Main Authors: Marta Espinosa, Juan Maria Roldán-Romero, Ignacio Duran, Enrique de Álava, María Apellaniz-Ruiz, Alberto Cascón, Carmen Garrigos, Mercedes Robledo, Cristina Rodriguez-Antona
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Cancer
Subjects:
Renal epithelioid angiomyolipoma
Sirolimus
TSC2 mutation
mTOR pathway activation
Online Access:http://link.springer.com/article/10.1186/s12885-018-4467-6

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http://link.springer.com/article/10.1186/s12885-018-4467-6

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