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

Marta EspinosaJuan Maria Roldán-RomeroIgnacio DuranEnrique de ÁlavaMaría Apellaniz-RuizAlberto CascónCarmen GarrigosMercedes RobledoCristina Rodríguez-Antona

Published in: BMC cancer (2018)

NGS on an EAML patient with an extraordinary response to sirolimus uncovered TSC2 inactivation as the mechanism for the response. This study supports NGS as a useful tool to identify patients sensitive to mTOR inhibitors and supports the treatment of malignant EAML with these drugs.

Keyphrases

case report
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
amyotrophic lateral sclerosis
drug induced