Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex

References

• FranzDNBisslerJJMcCormackFXTuberous sclerosis complex: neurological, renal and pulmonary manifestationsNeuropediatrics201041519920821210335
   PubMed Web of Science ®Google Scholar
• TurnerSGPetersKBVredenburghJJDesjardinsAFriedmanHSReardonDAEverolimus tablets for patients with subependymal giant cell astrocytomaExpert Opin Pharmacother201112142265226921806479
   PubMed Web of Science ®Google Scholar
• HallettLFosterTLiuZBliedenMValentimJBurden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic reviewCurr Med Res Opin20112781571158321692602
   PubMed Web of Science ®Google Scholar
• BuddeKGaedekeJTuberous sclerosis complex-associated angiomyolipomas: focus on mTOR inhibitionAm J Kidney Dis201259227628322130643
   PubMed Web of Science ®Google Scholar
• SchwartzRAFernandezGKotulskaKJozwiakSTuberous sclerosis complex: advances in diagnosis, genetics, and managementJ Am Acad Dermatol200757218920217637444
   PubMed Web of Science ®Google Scholar
• CuratoloPBombardieriRJozwiakSTuberous sclerosisLancet2008372963965766818722871
   PubMed Web of Science ®Google Scholar
• BisslerJJKingswoodJCRenal angiomyolipomataKidney Int200466392493415327383
   PubMed Web of Science ®Google Scholar
• CrinoPBNathansonKLHenskeEPThe tuberous sclerosis complexN Engl J Med2006355131345135617005952
   PubMed Web of Science ®Google Scholar
• AdriaensenMESchaefer-ProkopCMStijnenTDuyndamDAZonnenbergBAProkopMPrevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literatureEur J Neurol200916669169619236458
   PubMed Web of Science ®Google Scholar
• GohSButlerWThieleEASubependymal giant cell tumors in tuberous sclerosis complexNeurology20046381457146115505165
   PubMed Web of Science ®Google Scholar
• ShepherdCWGomezMRLieJTCrowsonCSCauses of death in patients with tuberous sclerosisMayo Clin Proc19916687927961861550
   PubMed Web of Science ®Google Scholar
• DixonBPHulbertJCBisslerJJTuberous sclerosis complex renal diseaseNephron Exp Nephrol20111181e15e2021071977
   PubMedGoogle Scholar
• YamakadoKTanakaNNakagawaTKobayashiSYanagawaMTakedaKRenal angiomyolipoma: relationships between tumor size, aneurysm formation, and ruptureRadiology20022251788212354988
   PubMed Web of Science ®Google Scholar
• HofbauerGFMarcollo-PiniACorsencaAThe mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosisBr J Dermatol2008159247347518547304
   PubMed Web of Science ®Google Scholar
• SeibertDHongCHTakeuchiFRecognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequencesAnn Intern Med20111541280681321690595
   PubMed Web of Science ®Google Scholar
• YatesJRTuberous sclerosisEur J Hum Genet200614101065107316868562
   PubMed Web of Science ®Google Scholar
• CostelloLCHartmanTERyuJHHigh frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complexMayo Clin Proc200075659159410852420
   PubMed Web of Science ®Google Scholar
• DaboraSLJozwiakSFranzDNMutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organsAm J Hum Genet2001681648011112665
   PubMed Web of Science ®Google Scholar
• SancakONellistMGoedbloedMMutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype:phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complexEur J Hum Genet200513673174115798777
   PubMed Web of Science ®Google Scholar
• AuKSWilliamsATRoachESGenotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United StatesGenet Med2007928810017304050
   PubMed Web of Science ®Google Scholar
• HuangJManningBDThe TSC1-TSC2 complex: a molecular switchboard controlling cell growthBiochem J2008412217919018466115
   PubMed Web of Science ®Google Scholar
• FranzDNAgricolaKDTudorCAKruegerDAEverolimus for tumor recurrence after surgical resection for subependymal giant cell astrocytoma associated with tuberous sclerosis complexJ Child Neurol201328560260722805244
   PubMed Web of Science ®Google Scholar
• LiYInokiKGuanKLBiochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activityMol Cell Biol200424187965797515340059
   PubMed Web of Science ®Google Scholar
• DowlingRJTopisirovicIFonsecaBDSonenbergNDissecting the role of mTOR: lessons from mTOR inhibitorsBiochim Biophys Acta20101804343343920005306
   PubMed Web of Science ®Google Scholar
• JentarraGMRiceSGOlfersSSaffenDNarayananVEvidence for population variation in TSC1 and TSC2 gene expressionBMC Med Genet2011122921345208
   PubMed Web of Science ®Google Scholar
• FranzDNEverolimus: an mTOR inhibitor for the treatment of tuberous sclerosisExp Rev Anticancer Ther201111811811192
   PubMed Web of Science ®Google Scholar
• van EeghenAMBlackMEPulsiferMBKwiatkowskiDJThieleEAGenotype and cognitive phenotype of patients with tuberous sclerosis complexEur J Hum Genet201220551051522189265
   PubMed Web of Science ®Google Scholar
• JansenACSancakOD’AgostinoMDUnusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutationAnn Neurol200660552853917120248
   PubMed Web of Science ®Google Scholar
• KruegerDNorthrupH2012TSC Clinical Consensus Conference: summary of updates diagnosis, treatment and surveillance guidelinesSilver Spring, MDTuberous Sclerosis Alliance2012
   Google Scholar
• BerhoumaMManagement of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon’s perspectiveWorld J Pediatr20106210311020490765
   PubMed Web of Science ®Google Scholar
• RoachESDiMarioFJKandtRSNorthrupHTuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis AssociationJ Child Neurol199914640140710385849
   PubMed Web of Science ®Google Scholar
• BeaumontTLLimbrickDDSmythMDAdvances in the management of subependymal giant cell astrocytomaChilds Nerv Syst201228796396822562196
   PubMed Web of Science ®Google Scholar
• SunPKohrmanMLiuJGuoARogerioJKruegerDOutcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysisCurr Med Res Opin201228465766322375958
   PubMed Web of Science ®Google Scholar
• CucciaVZuccaroGSosaFMongesJLubieniekyFTaratutoALSubependymal giant cell astrocytoma in children with tuberous sclerosisChilds Nerv Syst200319423224312715190
   PubMed Web of Science ®Google Scholar
• SunPKruegerDLiuJGuoARogerioJKohrmanMSurgical resection of subependymal giant cell astrocytomas (SEGAs) and changes in SEGA-related conditions: a US national claims database studyCurr Med Res Opin201228465165622375957
   PubMed Web of Science ®Google Scholar
• FranzDNBelousovaESparaganaSEfficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trialLancet2013381986112513223158522
   PubMed Web of Science ®Google Scholar
• CampenCJPorterBESubependymal giant cell astrocytoma (SEGA) treatment updateCurr Treat Options Neurol201113438038521465222
   PubMed Web of Science ®Google Scholar
• de RibaupierreSDorfmüllerGBulteauCSubependymal giant-cell astrocytomas in pediatric tuberous sclerosis disease: when should we operate?Neurosurgery2007601838917228255
   PubMed Web of Science ®Google Scholar
• AminSCarterMEdwardsRJThe outcome of surgical management of subependymal giant cell astrocytoma in tuberous sclerosis complexEur J Paediatr Neurol2013171364423183057
   PubMed Web of Science ®Google Scholar
• LevineNBCollinsJFranzDNCroneKRGradual formation of an operative corridor by balloon dilation for resection of subependymal giant cell astrocytomas in children with tuberous sclerosis: specialized minimal access technique of balloon dilationMinim Invasive Neurosurg200649531732017163349
   PubMedGoogle Scholar
• JozwiakSNabboutRCuratoloPManagement of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): clinical recommendationsEur J Paediatr Neurol201317434835223391693
   PubMed Web of Science ®Google Scholar
• MatsumuraHTakimotoHShimadaNHirataMOhnishiTHayakawaTGlioblastoma following radiotherapy in a patient with tuberous sclerosisNeurol Med Chir (Tokyo)19983852872919640965
   PubMed Web of Science ®Google Scholar
• SooriakumaranPGibbsPCoughlinGAngiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treatedBJU Int2010105110110619493268
   PubMed Web of Science ®Google Scholar
• BisslerJJRacadioJDonnellyLFJohnsonNDReduction of postembolization syndrome after ablation of renal angiomyolipomaAm J Kidney Dis200239596697111979340
   PubMed Web of Science ®Google Scholar
• KohrmanMHEmerging treatments in the management of tuberous sclerosis complexPediatr Neurol201246526727522520346
   PubMed Web of Science ®Google Scholar
• Afinitor (everolimus) tablets for oral administration [summary of product characteristics]Stein, SwitzerlandNovartis Pharma AG2012
   Google Scholar
• O’ReillyTMcSheehyPMBiomarker development for the clinical activity of the mTOR inhibitor everolimus (RAD001): processes, limitations, and further proposalsTransl Oncol201032657920360931
   PubMed Web of Science ®Google Scholar
• LebwohlDThomasGLaneHAResearch and innovation in the development of everolimus for oncologyExpert Opin Drug Discov20116332333822647206
   PubMed Web of Science ®Google Scholar
• HoughtonPJEverolimusClin Cancer Res20101651368137220179227
   PubMed Web of Science ®Google Scholar
• LaneHAWoodJMMcSheehyPMmTOR inhibitor RAD001 (everolimus) has antiangiogenic/vascular properties distinct from a VEGFR tyrosine kinase inhibitorClin Cancer Res20091551612162219223496
   PubMed Web of Science ®Google Scholar
• TanakaCO’ReillyTKovarikJMIdentifying optimal biologic doses of everolimus (RAD001) in patients with cancer based on the modeling of preclinical and clinical pharmacokinetic and pharmacodynamic dataJ Clin Oncol200826101596160218332467
   PubMedGoogle Scholar
• KirchnerGIMeier-WiedenbachIMannsMPClinical pharmacokinetics of everolimusClin Pharmacokinet2004432839514748618
   PubMed Web of Science ®Google Scholar
• O’DonnellAFaivreSBurrisHA3rdPhase I pharmacokinetic and pharmacodynamic study of the oral mammalian target of rapamycin inhibitor everolimus in patients with advanced solid tumorsJ Clin Oncol200826101588159518332470
   PubMed Web of Science ®Google Scholar
• KovarikJMHartmannSFigueiredoJEffect of food on everolimus absorption: quantification in healthy subjects and a confirmatory screening in patients with renal transplantsPharmacotherapy200222215415911837553
   PubMed Web of Science ®Google Scholar
• CroweABruelisauerADuerrLGuntzPLemaireMAbsorption and intestinal metabolism of SDZ-RAD and rapamycin in ratsDrug Metab Dispos199927562763210220493
   PubMed Web of Science ®Google Scholar
• KruegerDACareMMHollandKEverolimus for subependymal giant-cell astrocytomas in tuberous sclerosisN Engl J Med2010363191801181121047224
   PubMed Web of Science ®Google Scholar
• KruegerDACareMMAgricolaKTudorCMaysMFranzDNEverolimus long-term safety and efficacy in subependymal giant-cell astrocytomaNeurology201380657458023325902
   PubMed Web of Science ®Google Scholar
• TillemaJMLeachJLKruegerDAFranzDNEverolimus alters white matter diffusion in tuberous sclerosis complexNeurology201278852653122262746
   PubMed Web of Science ®Google Scholar
• Novartis PharmaceuticalsEfficacy and Safety of Everolimus (RAD001) in Patients of All Ages With Subependymal Giant Cell Astrocytoma Associated With Tuberous Sclerosis Complex (TSC)(EXIST-1) Available from http://www.clinicaltrials.gov/ct2/show/NCT00789828. NLM identifier: NCT00789828Accessed September 11, 2013
   Google Scholar
• BisslerJJKingswoodJCRadzikowskaEEverolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trialLancet2013381986981782423312829
   PubMed Web of Science ®Google Scholar
• WanXHarkavyBShenNGroharPHelmanLJRapamycin induces feedback activation of Akt signaling through an IGF-1R-dependent mechanismOncogene200726131932194017001314
   PubMed Web of Science ®Google Scholar
• El-HashemiteNWalkerVZhangHKwiatkowskiDJLoss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycinCancer Res200363175173517714500340
   PubMed Web of Science ®Google Scholar
• DaboraSLFranzDNAshwalSMulticenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress andPLoS One201169e2337921915260
   PubMed Web of Science ®Google Scholar
• FranzDNKingswoodCJozwiakSEffect of everolimus on angiogenic biomarkers in patients with tuberous sclerosis complex (TSC): results From EXIST-1 and EXIST-2Poster presented at: American Society of Clinical OncologyJune 1–5, 2012Chicago, IL
   Google Scholar
• EkiciMAKumandasSPerHSurgical timing of the subependymal giant cell astrocytoma (SEGA) with the patients of tuberous sclerosis complexTurk Neurosurg201121331532421845566
   PubMed Web of Science ®Google Scholar
• KovarikJMHartmannSFigueiredoJRouillyMPortARordorfCEffect of rifampin on apparent clearance of everolimusAnn Pharmacother200236698198512022896
   PubMed Web of Science ®Google Scholar
• FouladiMLaninghamFWuJPhase I study of everolimus in pediatric patients with refractory solid tumorsJ Clin Oncol2007253018061812
   Web of Science ®Google Scholar