title: Use of mTOR inhibitor everolimus in three neonates for treatment of tumors associated with tuberous sclerosis complex.
abstract: BACKGROUND
  Tuberous sclerosis complex is characterized by the growth of benign tumors in multiple organs, caused by the disinhibition of the mammalian target of rapamycin (mTOR) protein. mTOR inhibitors, such as everolimus, are used in patients with tuberous sclerosis complex, mainly to reduce the size of renal angiomyolipomas and subependymal giant cell astrocytomas. There are minimal data available regarding its use during the neonatal period.
  
  
  METHODS
  We report clinical and pharmacological data of three neonates treated with the mTOR inhibitor everolimus (two hemodynamically significant cardiac rhabdomyomas and one voluminous subependymal giant cell astrocytoma).
  
  
  RESULTS
  Beneficial clinical responses were observed in all three patients and the medication was generally well-tolerated. Optimal dose was 0.1 mg orally once daily and was confirmed with therapeutic drug monitoring.
  
  
  CONCLUSIONS
  Everolimus is a promising pharmacological approach to treat clinically significant inoperable cardiac rhabdomyomas or subependymal giant cell astrocytoma associated with tuberous sclerosis complex during the neonatal period.
authors: Department of Pharmacy, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
authors: Isabelle
authors: I
authors: Goyer
authors: Division of Pediatric Cardiology, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
authors: Nagib
authors: N
authors: Dahdah
authors: Department of Neurosciences, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada. Electronic address: philippe.major@umontreal.ca.
authors: Philippe
authors: P
authors: Major
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use*; D001254:Astrocytoma / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D002551:Cerebral Ventricle Neoplasms / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D000068338:Everolimus / Q000627:therapeutic use*; D005260:Female; D005500:Follow-Up Studies; D006338:Heart Neoplasms / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use*; D012207:Rhabdomyoma / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors* / Q000378:metabolism; D014402:Tuberous Sclerosis / Q000473:pathology / Q000503:physiopathology*
chemical_list: D000970:Antineoplastic Agents; D047428:Protein Kinase Inhibitors; D000068338:Everolimus; D058570:TOR Serine-Threonine Kinases
keywords: cardiac rhabdomyoma; mTOR inhibitors; subependymal giant cell astrocytoma; tuberous sclerosis complex