title: Percutaneous cryoablation for tuberous sclerosis-associated renal angiomyolipoma with neoadjuvant mTOR inhibition.
abstract: BACKGROUND
  Renal angiomyolipomas (AMLs) are frequent in tuberous sclerosis and are responsible for a significant proportion of the morbidity in adulthood, mainly from bleeding complications, which are correlated to the size of the AMLs. We describe the case of a 19-year-old female with multiple bilateral renal angiomyolipomas.
  
  
  METHODS
  The renal AMLs measured up to 6 cm in size. She was first treated with a low dose of the mammalian target of rapamycin (mTOR) inhibitor sirolimus (up to 3 mg/day over a 12-month period) and following significant AML size reduction, percutaneous cryoablation was performed. No side-effects of either treatment were reported. At 12 months post-cryoablation, no recurrence of the AML was noted.
  
  
  CONCLUSIONS
  This is the first report of this treatment strategy and the case study reveals that combining a low dose of an mTOR inhibitor with percutaneous cryoablation to treat small tumors mitigates the side-effects while providing a good clinical outcome. This therapeutic approach is a novel tool for the clinician involved in the management of patients with tuberous sclerosis.
authors.affiliation: Department of Nephrology, University Hospital, Strasbourg, France. thierry.krummel@chru-strasbourg.fr.
authors.forename: Thierry
authors.initials: T
authors.lastname: Krummel
authors.forename: Julien
authors.initials: J
authors.lastname: Garnon
authors.forename: Hervé
authors.initials: H
authors.lastname: Lang
authors.forename: Afshin
authors.initials: A
authors.lastname: Gangi
authors.forename: Thierry
authors.initials: T
authors.lastname: Hannedouche
mesh_terms: D000328:Adult; D018207:Angiomyolipoma / Q000150:complications / Q000473:pathology / Q000628:therapy*; D003452:Cryosurgery / Q000379:methods*; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications / Q000473:pathology / Q000628:therapy*; D020360:Neoadjuvant Therapy; D020123:Sirolimus / Q000627:therapeutic use*; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors*; D016896:Treatment Outcome; D014402:Tuberous Sclerosis / Q000150:complications*; D055815:Young Adult
chemical_list: D058570:TOR Serine-Threonine Kinases; D020123:Sirolimus