2023
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay E, Robert S, Kiziltug E, Damisah E, Nelson-Williams C, Zhu G, Kong W, Huang A, Stronge E, Phillips H, Chhouk B, Bizzotto S, Chen M, Adikari T, Ye Z, Witkowski T, Lai D, Lee N, Lokan J, Scheffer I, Berkovic S, Haider S, Hildebrand M, Yang E, Gunel M, Lifton R, Richardson R, Blümcke I, Alexandrescu S, Huttner A, Heinzen E, Zhu J, Poduri A, DeLanerolle N, Spencer D, Lee E, Walsh C, Kahle K. Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. JAMA Neurology 2023, 80: 578-587. PMID: 37126322, PMCID: PMC10152377, DOI: 10.1001/jamaneurol.2023.0473.Peer-Reviewed Original ResearchConceptsDrug-resistant mesial temporal lobe epilepsyMesial temporal lobe epilepsyPathogenic somatic variantsTemporal lobe epilepsyMedian ageLobe epilepsyTemporal neocortexHippocampal tissueLevel 4 epilepsy centerAvailable frozen tissueSomatic variantsControl brain tissueMedial temporal lobectomyNew therapeutic targetsMolecular assaysGene panel sequencingRas/Raf/MAPK signalingAntiseizure medicationsMost patientsCommon indicationGermline genetic variantsEpilepsy centersTemporal lobectomyEpilepsy surgerySex-matched neurotypical controls
2022
Spectrum of qualitative and quantitative imaging of pilomyxoid, intermediate pilomyxoid and pilocytic astrocytomas in relation to their genetic alterations
Fadel SA, von Reppert M, Kazarian E, Omay EZE, Marks A, Linder N, Hoffmann KT, Darbinyan A, Huttner A, Aboian MS. Spectrum of qualitative and quantitative imaging of pilomyxoid, intermediate pilomyxoid and pilocytic astrocytomas in relation to their genetic alterations. Neuroradiology 2022, 65: 195-205. PMID: 35984480, DOI: 10.1007/s00234-022-03027-3.Peer-Reviewed Original ResearchMeSH KeywordsAstrocytomaBrain NeoplasmsChildHumansMutationProto-Oncogene Proteins B-rafRetrospective StudiesConceptsPilocytic astrocytomaImaging characteristicsADC valuesAggressive imaging characteristicsSuprasellar pilocytic astrocytomaRecurrence/progressionPediatric brain tumorsFrontal white matterWhole-exome sequencingPilomyxoid astrocytomaIntraventricular extensionSuprasellar regionThird ventriclePosterior fossaAtypical locationBrain tumorsWhite matterGrade 1TumorsAstrocytomasDriver mutationsExome sequencingGenetic alterationsPatientsHippocampus
2020
Associations of meningioma molecular subgroup and tumor recurrence
Youngblood MW, Miyagishima DF, Jin L, Gupte T, Li C, Duran D, Montejo JD, Zhao A, Sheth A, Tyrtova E, Özduman K, Iacoangeli F, Peyre M, Boetto J, Pease M, Avşar T, Huttner A, Bilguvar K, Kilic T, Pamir MN, Amankulor N, Kalamarides M, Erson-Omay EZ, Günel M, Moliterno J. Associations of meningioma molecular subgroup and tumor recurrence. Neuro-Oncology 2020, 23: 783-794. PMID: 33068421, PMCID: PMC8099468, DOI: 10.1093/neuonc/noaa226.Peer-Reviewed Original ResearchMeSH KeywordsEpigenomicsGenomicsHumansKruppel-Like Factor 4MaleMeningeal NeoplasmsMeningiomaNeoplasm Recurrence, LocalRetrospective StudiesConceptsDivergent clinical coursesMolecular subgroupsClinical courseClinical outcomesProgression-free survivalExtent of resectionKaplan-Meier analysisLong-term outcomesLow-grade tumorsCox proportional hazardsDistinct clinical outcomesPostoperative radiationIndependent predictorsMale sexRecurrence rateSurveillance imagingTumor recurrencePrevious recurrencesClinical prognosticationKi-67Outcome dataAggressive subgroupRecurrenceElevated recurrenceProportional hazards