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 m...

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Detalles Bibliográficos
Autores principales: Espinosa, Marta, Roldán-Romero, Juan Maria, Duran, Ignacio, de Álava, Enrique, Apellaniz-Ruiz, María, Cascón, Alberto, Garrigos, Carmen, Robledo, Mercedes, Rodriguez-Antona, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952422/
https://www.ncbi.nlm.nih.gov/pubmed/29764404
http://dx.doi.org/10.1186/s12885-018-4467-6

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