Article
Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation.
BMC cancer - 15 May 2018
Espinosa Marta, Roldán-Romero Juan Maria, Duran Ignacio, de Álava Enrique, Apellaniz-Ruiz María, Cascón Alberto, Garrigos Carmen, Robledo Mercedes, Rodriguez-Antona Cristina
Abstract excerpt
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. CASE PRESENTATION: Here we...
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