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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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Podrobná bibliografie
Vydáno v:BMC Cancer
Hlavní autoři: Espinosa, Marta, Roldán-Romero, Juan Maria, Duran, Ignacio, de Álava, Enrique, Apellaniz-Ruiz, María, Cascón, Alberto, Garrigos, Carmen, Robledo, Mercedes, Rodriguez-Antona, Cristina
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5952422/
https://ncbi.nlm.nih.gov/pubmed/29764404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12885-018-4467-6
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