2022
EPCO-40. INFRATENTORIAL NF2 MUTANT SPORADIC MENINGIOMAS DIFFER FROM THOSE IN SUPRATENTORIAL LOCATIONS AND ARE MORE BENIGN
Vasandani S, Vetsa S, Jalal M, Yalcin K, Marianayagam N, Nadar A, Jin L, Fulbright R, Erson-Omay E, Günel M, Moliterno J. EPCO-40. INFRATENTORIAL NF2 MUTANT SPORADIC MENINGIOMAS DIFFER FROM THOSE IN SUPRATENTORIAL LOCATIONS AND ARE MORE BENIGN. Neuro-Oncology 2022, 24: vii125-vii125. DOI: 10.1093/neuonc/noac209.474.Peer-Reviewed Original ResearchSupratentorial locationWhole-exome sequencing dataHigh-risk clinical featuresLonger progression-free survivalProgression-free survivalExtent of resectionShorter overall survivalDifferent intracranial locationsChromosome 1p deletionOverall survivalClinical featuresInfratentorial tumorsAggressive featuresClinical manifestationsClinical behaviorKi-67Intracranial locationMeningiomasTumorsUnstable tumorsNF2 lossResectionGenomic profilesPatientsExome sequencing data
2014
Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations
Shenkar R, Shi C, Rebeiz T, Stockton RA, McDonald DA, Mikati AG, Zhang L, Austin C, Akers AL, Gallione CJ, Rorrer A, Gunel M, Min W, Marcondes de Souza J, Lee C, Marchuk DA, Awad IA. Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. Genetics In Medicine 2014, 17: 188-196. PMID: 25122144, PMCID: PMC4329119, DOI: 10.1038/gim.2014.97.Peer-Reviewed Original ResearchMeSH Keywords1-(5-Isoquinolinesulfonyl)-2-MethylpiperazineAdolescentAdultAnimalsApoptosis Regulatory ProteinsCarrier ProteinsCells, CulturedCentral Nervous System NeoplasmsChildChild, PreschoolDisease Models, AnimalHemangioma, Cavernous, Central Nervous SystemHuman Umbilical Vein Endothelial CellsHumansInfantIntracellular Signaling Peptides and ProteinsKeratin-1Membrane ProteinsMiceMiddle AgedMutationProspective StudiesProto-Oncogene ProteinsRho-Associated KinasesStress FibersYoung AdultConceptsCerebral cavernous malformation diseaseRho-kinase activityLesion burdenExceptional aggressivenessCerebral cavernous malformation lesionsSporadic cerebral cavernous malformationBrain vascular permeabilityPreclinical therapeutic testingDesign of trialsPotential therapeutic targetCerebral cavernous malformationsClinical manifestationsBrain permeabilityEndothelial stress fibersSkin lesionsVascular permeabilityCavernous malformationsTherapeutic targetTherapeutic testingFrequent hemorrhagesKinase activityClinical phenotypeClinical counselingHeterozygous miceEndothelial cells