2025
DNA damage response profile distinguishes poor-acting gliomas with shared methylome signatures
Leelatian N, Singh C, Bouffard R, Sundaram R, Diggins K, Sullivan W, Paradkar S, Omay Z, Mobley B, Gueble S, Vasquez J, Bindra R. DNA damage response profile distinguishes poor-acting gliomas with shared methylome signatures. Neuro-Oncology 2025, noaf199. PMID: 40887772, DOI: 10.1093/neuonc/noaf199.Peer-Reviewed Original ResearchDNA damage responseLow-grade gliomasGene expression patternsGene expressionDiffuse gliomasImaging Mass CytometryPoor survivalHigher abundanceSingle-cell heterogeneityAssociated with poor survivalClinical assessmentSingle-cell protein analysisDNA methylation profilesGlobal DNA methylation profilesIDH mutation statusDNA damage response defectsProliferative tumor cellsNovel treatment strategiesOutcome of gliomaEffector expressionMGMT statusMutation statusTumor levelsActive area of investigationMethylation profilesSomatic SMARCB1 mutation in spinal meningioma represents branched evolution in a patient with multiple sporadic meningiomas
Gupta M, Samiappan S, Alanya H, Yalcin K, Gultekin B, Sharaf R, Elsamadicy A, Figuera D, Samuel N, Mishra-Gorur K, Kolb L, McGuone D, Gunel M, Erson-Omay E, Moliterno J, Mendel E. Somatic SMARCB1 mutation in spinal meningioma represents branched evolution in a patient with multiple sporadic meningiomas. Neuro-Oncology Advances 2025, 7: vdaf067. PMID: 40386121, PMCID: PMC12081948, DOI: 10.1093/noajnl/vdaf067.Peer-Reviewed Original ResearchDysregulation of mTOR signalling is a converging mechanism in lissencephaly
Zhang C, Liang D, Ercan-Sencicek A, Bulut A, Cortes J, Cheng I, Henegariu O, Nishimura S, Wang X, Peksen A, Takeo Y, Caglar C, Lam T, Koroglu M, Narayanan A, Lopez-Giraldez F, Miyagishima D, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay E, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan A, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. Nature 2025, 638: 172-181. PMID: 39743596, PMCID: PMC11798849, DOI: 10.1038/s41586-024-08341-9.Peer-Reviewed Original ResearchP53-induced death domain protein 1Miller-Dieker lissencephaly syndromeMolecular mechanismsDysregulation of protein translationDysregulation of mTOR signalingDomain protein 1Activity of mTOR complexesMTOR pathwayRelevant molecular mechanismsProtein translationHuman lissencephalyClinically relevant molecular mechanismsRecessive mutationsRare mutationsMiller-DiekerGene expressionCerebral cortex developmentMTOR complexesSpectrum disorderMolecular defectsMTOR signalingCongenital brain malformationsProtein 1GeneticsAssociated with epilepsy
2024
Genetics and molecular pathophysiology of normal pressure hydrocephalus.
Mehta N, Maury E, Buller Z, Duy P, Fortes C, Alper S, Erson-Omay E, Kahle K. Genetics and molecular pathophysiology of normal pressure hydrocephalus. Journal Of Neurosurgery 2024, 142: 346-352. PMID: 39178477, DOI: 10.3171/2024.5.jns24980.Peer-Reviewed Original ResearchIdiopathic normal pressure hydrocephalusNormal pressure hydrocephalusPathophysiology of idiopathic normal pressure hydrocephalusIntegrative genetic analysisPressure hydrocephalusPathophysiology of normal pressure hydrocephalusGenomic studiesGenetic analysisGenetic insightsUrinary incontinenceSurgical interventionCerebral ventricleClinical studiesFamilial casesMolecular pathophysiologyCSF dynamicsDisease pathogenesisNeuroinflammatory processesCerebral pressureHydrocephalusGeneticsCognitive impairmentVariations in the genomic profiles and clinical behavior of meningioma by racial and ethnic group.
Tabor J, Dincer A, O'Brien J, Lei H, Vetsa S, Vasandani S, Jalal M, Yalcin K, Morales-Valero S, Marianayagam N, Alanya H, Elsamadicy A, Millares Chavez M, Aguilera S, Mishra-Gorur K, McGuone D, Fulbright R, Jin L, Erson-Omay E, Günel M, Moliterno J. Variations in the genomic profiles and clinical behavior of meningioma by racial and ethnic group. Journal Of Neurosurgery 2024, 141: 664-672. PMID: 38518289, DOI: 10.3171/2024.1.jns231633.Peer-Reviewed Original ResearchBlack patientsSporadic meningiomasClinical outcomesGenomic profilingClinical behavior of meningiomasShorter progression-free survivalAnterior skull base tumorsClinical data of patientsHispanic patientsProgression-free survivalChromosome 1p deletionBehavior of meningiomasIncreased recurrence rateRate of recurrenceSkull base tumorsData of patientsSomatic driver mutationsNon-black patientsShorter PFSOverall survivalAggressive meningiomasTRAF7 mutationsIntracranial meningiomasMeningioma resectionNon-black group
2023
Application of novel PACS-based informatics platform to identify imaging based predictors of CDKN2A allelic status in glioblastomas
Tillmanns N, Lost J, Tabor J, Vasandani S, Vetsa S, Marianayagam N, Yalcin K, Erson-Omay E, von Reppert M, Jekel L, Merkaj S, Ramakrishnan D, Avesta A, de Oliveira Santo I, Jin L, Huttner A, Bousabarah K, Ikuta I, Lin M, Aneja S, Turowski B, Aboian M, Moliterno J. Application of novel PACS-based informatics platform to identify imaging based predictors of CDKN2A allelic status in glioblastomas. Scientific Reports 2023, 13: 22942. PMID: 38135704, PMCID: PMC10746716, DOI: 10.1038/s41598-023-48918-4.Peer-Reviewed Original ResearchConceptsInformatics platformDeep learning algorithmsImaging featuresCDKN2A alterationsLearning algorithmHeterozygous lossHomozygous deletionLarge datasetsDeep white matter invasionGBM molecular subtypesNew informaticsQualitative imaging biomarkersWhole-exome sequencingQualitative imaging featuresGBM resectionRadiographic evidenceWorse prognosisPACSMolecular subtypesPial invasionImaging biomarkersCDKN2A mutationsAllele statusNoninvasive identificationMagnetic resonance imagesThrombocyte-derived Dickkopf1 promotes macrophage polarization in the Bleomycin-induced lung injury model
Sung E, Park M, Song S, Alanya H, Henegariu O, Liu J, Erson-Omay E, Sime P, Chae W. Thrombocyte-derived Dickkopf1 promotes macrophage polarization in the Bleomycin-induced lung injury model. Frontiers In Immunology 2023, 14: 1247330. PMID: 38162655, PMCID: PMC10757334, DOI: 10.3389/fimmu.2023.1247330.Peer-Reviewed Original ResearchConceptsLung injury modelMacrophage polarizationTissue repair processInjury modelMonocyte-derived alveolar macrophagesInjury-induced inflammationTissue repairRepair processRole of WntGene expression profilesImmunomodulatory roleIL-13Tissue injuryImmune responseInflammationCollagen depositionAlveolar macrophagesMacrophagesTissue homeostasisProtein expressionGene expressionRegulatory ligandsExpression profilesWnt antagonist Dickkopf1Dickkopf1Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Zhao S, Mekbib K, van der Ent M, Allington G, Prendergast A, Chau J, Smith H, Shohfi J, Ocken J, Duran D, Furey C, Hao L, Duy P, Reeves B, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu P, Wang Y, Mane S, Piwowarczyk P, Fehnel K, See A, Iskandar B, Aagaard-Kienitz B, Moyer Q, Dennis E, Kiziltug E, Kundishora A, DeSpenza T, Greenberg A, Kidanemariam S, Hale A, Johnston J, Jackson E, Storm P, Lang S, Butler W, Carter B, Chapman P, Stapleton C, Patel A, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay E, Zhao H, Moreno-De-Luca A, Proctor M, Smith E, Orbach D, Alper S, Nicoli S, Boggon T, Lifton R, Gunel M, King P, Jin S, Kahle K. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nature Communications 2023, 14: 7452. PMID: 37978175, PMCID: PMC10656524, DOI: 10.1038/s41467-023-43062-z.Peer-Reviewed Original ResearchConceptsEphrin receptor B4Galen malformationBrain arteriovenous malformationsP120 RasGAPTransmitted variantsArteriovenous malformationsDe novo variantsSingle-cell transcriptomesSignificant burdenCerebrovascular developmentIntegrative genomic analysisEndothelial cellsVenous networkAdditional probandsMalformationsNovo variantsMissense variantsGenomic analysisDevelopmental angiogenesisVascular developmentDamaging variantsVeinRasGAPIntegrated analysisPatientsSuper-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas
Youngblood M, Erson-Omay Z, Li C, Najem H, Coșkun S, Tyrtova E, Montejo J, Miyagishima D, Barak T, Nishimura S, Harmancı A, Clark V, Duran D, Huttner A, Avşar T, Bayri Y, Schramm J, Boetto J, Peyre M, Riche M, Goldbrunner R, Amankulor N, Louvi A, Bilgüvar K, Pamir M, Özduman K, Kilic T, Knight J, Simon M, Horbinski C, Kalamarides M, Timmer M, Heimberger A, Mishra-Gorur K, Moliterno J, Yasuno K, Günel M. Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas. Nature Communications 2023, 14: 6279. PMID: 37805627, PMCID: PMC10560290, DOI: 10.1038/s41467-023-41926-y.Peer-Reviewed Original ResearchSporadic pituitary adenoma with somatic double-hit loss of MEN1
Hong C, Alanya H, DiStasio M, Boulware S, Rimmer R, Omay S, Erson-Omay E. Sporadic pituitary adenoma with somatic double-hit loss of MEN1. Pituitary 2023, 26: 488-494. PMID: 37438451, DOI: 10.1007/s11102-023-01336-1.Peer-Reviewed Original ResearchContribution 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 controlsClinical and genomic differences in supratentorial versus infratentorial NF2 mutant meningiomas.
Tabor J, O'Brien J, Vasandani S, Vetsa S, Lei H, Jalal M, Marianayagam N, Jin L, Millares Chavez M, Haynes J, Dincer A, Yalcin K, Aguilera S, Omay S, Mishra-Gorur K, McGuone D, Morales-Valero S, Fulbright R, Gunel M, Erson-Omay E, Moliterno J. Clinical and genomic differences in supratentorial versus infratentorial NF2 mutant meningiomas. Journal Of Neurosurgery 2023, 139: 1648-1656. PMID: 37243548, DOI: 10.3171/2023.4.jns222929.Peer-Reviewed Original ResearchConceptsSubtotal resectionSupratentorial tumorsElevated Ki-67High-risk featuresProgression-free survivalChromosome 1p deletionInfratentorial counterpartsInfratentorial tumorsPostoperative managementSomatic driver mutationsCerebral convexityGrade IIInfratentorial meningiomasKi-67Posterior fossaLoss of heterozygosityMeningiomasResectionTumorsWhole-exome sequencing dataDriver mutationsHigh gradeSignificant differencesExome sequencing dataSporadic meningiomasVascular steal and associated intratumoral aneurysms in highly vascular brain tumors: illustrative case
Hong C, Marianayagam N, Morales-Valero S, Barak T, Tabor J, O’Brien J, Huttner A, Baehring J, Gunel M, Erson-Omay E, Fulbright R, Matouk C, Moliterno J. Vascular steal and associated intratumoral aneurysms in highly vascular brain tumors: illustrative case. Journal Of Neurosurgery Case Lessons 2023, 5: case22512. PMID: 36880509, PMCID: PMC10550659, DOI: 10.3171/case22512.Peer-Reviewed Original ResearchVascular brain tumorsVascular stealIntratumoral aneurysmBrain tumorsAdditional vascular imagingRight ophthalmic arteryMaximal safe resectionDiagnostic cerebral angiographyMinimal blood lossVascular steal phenomenonOpen tumor resectionDural-based lesionsSteal phenomenonBlood lossCerebral angiographyClinical suspicionNeurological symptomsOphthalmic arterySurgical strategySafe resectionVascular tumorsBlurred visionEndovascular embolizationTomography angiographyTumor resectionEpstein-Barr virus–associated primary intracranial leiomyosarcoma in an immunocompetent patient: illustrative case
Tabor J, Lei H, Morales-Valero S, O’Brien J, Gopal P, Erson-Omay E, Fulbright R, Moliterno J. Epstein-Barr virus–associated primary intracranial leiomyosarcoma in an immunocompetent patient: illustrative case. Journal Of Neurosurgery Case Lessons 2023, 5: case22532. PMID: 36692065, PMCID: PMC10550697, DOI: 10.3171/case22532.Peer-Reviewed Original ResearchEpstein-Barr virusPrimary intracranial leiomyosarcomaHuman immunodeficiency virusImmunocompetent statusImmunocompetent patientsIntracranial leiomyosarcomaMainstay of treatmentGross total resectionLeft-sided headacheSmooth muscle tumorsLeft middle cranial fossaMagnetic resonance imagingMiddle cranial fossaDura-based massUncomplicated resectionPrompt diagnosisTotal resectionAssociated edemaImmunodeficiency virusPoor prognosisMuscle tumorsRare diagnosisRare tumorImmunocompromised individualsPatients
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 ResearchConceptsPilocytic 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 alterationsPatientsHippocampusGenomic profiling of sporadic multiple meningiomas
Erson-Omay EZ, Vetsa S, Vasandani S, Barak T, Nadar A, Marianayagam NJ, Yalcin K, Miyagishima D, Aguilera SM, Robert S, Mishra-Gorur K, Fulbright RK, McGuone D, Günel M, Moliterno J. Genomic profiling of sporadic multiple meningiomas. BMC Medical Genomics 2022, 15: 112. PMID: 35568945, PMCID: PMC9107270, DOI: 10.1186/s12920-022-01258-0.Peer-Reviewed Original ResearchConceptsGrade IComprehensive next-generation sequencingMonoclonal originClinical management strategiesPrior radiation exposureRelevant clinical dataMajority of tumorsInter-tumoral heterogeneitySurgical resectionClinical behaviorGrade IIClinical dataFamily historyMultiple meningiomasGrade I.Same patientMonoclonal expansionPatientsClonal formationBilateral meningiomasMeningiomasIndividual tumorsTumorsPatient behavesGenomic profilingBiallelic inactivation of PBRM1 as a molecular driver in a rare pineoblastoma case: illustrative case
Antonios JP, Yalcin K, Darbinyan A, Koo A, Hong CS, DiLuna M, Erson-Omay Z. Biallelic inactivation of PBRM1 as a molecular driver in a rare pineoblastoma case: illustrative case. Journal Of Neurosurgery Case Lessons 2022, 3: case2213. PMID: 36303510, PMCID: PMC9379698, DOI: 10.3171/case2213.Peer-Reviewed Original ResearchMolecular driversPineal parenchymal tumorsRenal cell carcinomaRare tumor typeParenchymal tumorsCell carcinomaBladder carcinomaPapillary featuresPineoblastomaTumor subtypesTumor typesConsensus groupBiallelic lossGenomic profilingCancer typesMolecular level alterationsLevel alterationsGenomic driversBiallelic inactivationCarcinomaDriver eventsTumor suppressorGenetic phenotypesPathway changesMultiomics studies
2021
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans
Barak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, Rai DK, Goc N, Aguilera SM, Gülez B, Altinok S, Ozcan K, Yarman Y, Coskun S, Sempou E, Deniz E, Hintzen J, Cox A, Fomchenko E, Jung SW, Ozturk AK, Louvi A, Bilgüvar K, Connolly ES, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. Nature Medicine 2021, 27: 2165-2175. PMID: 34887573, PMCID: PMC8768030, DOI: 10.1038/s41591-021-01572-7.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPeptidyl-prolyl cis-transPathogenesis of IAContribution of variantsCommon genetic variantsVertebrate modelDeleterious mutationsWnt activatorAssociation studiesWhole-exome sequencingSignificant enrichmentGenetic variantsWntAngiogenesis regulatorsMutationsGene mutationsBrain angiogenesisIntracranial aneurysm ruptureJMJD6AngiogenesisCerebrovascular morphologyCerebrovascular integrityIntracerebral hemorrhageAneurysm ruptureVariantsComprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report
Hong CS, Elsamadicy AA, Fisayo A, Inzucchi SE, Gopal PP, Vining EM, Erson-Omay EZ, Omay S. Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report. Frontiers In Endocrinology 2021, 12: 762095. PMID: 34925233, PMCID: PMC8671743, DOI: 10.3389/fendo.2021.762095.Peer-Reviewed Original ResearchConceptsGranular cell tumorPosterior pituitary glandCell tumorsPituitary glandComprehensive genomic characterizationWhole-exome sequencingImmune checkpoint inhibitorsPoor clinical outcomePituitary gland tumorsHistone deacetylase inhibitorsInstitutional review boardRadiographic compressionUnderwent resectionCheckpoint inhibitorsMedical therapyPituitary massClinical outcomesOptic nerveSignificant morbidityResidual diseaseCase reportCentral hypothyroidismPharmacologic agentsGland tumorsTherapeutic targetingThe integrated multiomic diagnosis of sporadic meningiomas: a review of its clinical implications
Robert SM, Vetsa S, Nadar A, Vasandani S, Youngblood MW, Gorelick E, Jin L, Marianayagam N, Erson-Omay EZ, Günel M, Moliterno J. The integrated multiomic diagnosis of sporadic meningiomas: a review of its clinical implications. Journal Of Neuro-Oncology 2021, 156: 205-214. PMID: 34846640, PMCID: PMC8816740, DOI: 10.1007/s11060-021-03874-9.Peer-Reviewed Original Research
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