2024
EPCO-35. GENOMIC CHARACTERIZATION OF GROWTH HORMONE SECRETING PITUITARY ADENOMAS
Alanya H, Yalcin K, Hilton B, Gultekin B, Mishra-Gorur K, McGuone D, Gunel M, Omay S, Erson-Omay Z. EPCO-35. GENOMIC CHARACTERIZATION OF GROWTH HORMONE SECRETING PITUITARY ADENOMAS. Neuro-Oncology 2024, 26: viii9-viii9. PMCID: PMC11553213, DOI: 10.1093/neuonc/noae165.0034.Peer-Reviewed Original ResearchGH-secreting pituitary adenomasWhole-exome sequencingPituitary adenomasGNAS mutationsCopy number variationsSporadic GH-secreting pituitary adenomasGrowth hormone (GH)-secreting pituitary adenomasGenomic profilingGrowth hormone secreting pituitary adenomaSecreting pituitary adenomasBlood samplesComprehensive genomic characterizationSomatic GNAS mutationsSingle nucleotide variantsMatched blood samplesGenomic instabilityAssessment of genomic instabilityStatistically significant differenceTumor sizeClinical featuresTumor samplesClinical dataTumorExome sequencingBrain tumorsExploiting blood-based biomarkers to align preclinical models with human traumatic brain injury
Lisi I, Moro F, Mazzone E, Marklund N, Pischiutta F, Kobeissy F, Mao X, Corrigan F, Helmy A, Nasrallah F, Di Pietro V, Ngwenya L, Portela L, Semple B, Schneider A, Diaz Arrastia R, Menon D, Smith D, Wellington C, Loane D, Wang K, Zanier E, Abbasloo E, Agrawal A, Anwer M, Anyaegbu C, Caeyenberghs K, Collins L, Corrigan F, Cowen G, Portela L, Cullen J, D'Alonzo B, Di Pietro V, Keene C, Esser M, Giersztein S, Helmy A, Hoffman S, Iacono D, Jha R, Johnson V, Justus J, Keene C, Lins B, Liebel S, Loane D, Mao X, Marklund N, McCrea M, McGuone D, Mohamed A, Moro F, Mychasiuk R, Nagarajan G, Nasrallah F, Ngum P, Ngwenya L, Oteng R, Parihar A, Phillips J, Pischiutta F, Prakash S, Robba C, Rostami E, Roselli F, Semple B, Shultz S, Smith D, Song H, Stefani M, Stewart W, Verma R, Wang K, Wellington C, Winston B, Zanier E. Exploiting blood-based biomarkers to align preclinical models with human traumatic brain injury. Brain 2024, awae350. PMID: 39514789, DOI: 10.1093/brain/awae350.Peer-Reviewed Original ResearchTraumatic brain injuryPreclinical modelsPreclinical studiesRodent modelsUCH-L1Experience traumatic brain injuriesBrain injuryReal world clinical practiceTranslation of drugsPost-injuryClinically relevant biomarkersPathophysiology of traumatic brain injuryHuman traumatic brain injuryWhite matter lossDose optimizationBlood-based biomarkersMedian quality scoreTreatment initiationTBI studiesTherapeutic decisionsDrug dose optimizationPharmacodynamic responseChronic phaseBlood levelsClinical trialsRocky Mountain Spotted Fever Encephalitis and "Starry Sky" Pattern on MRI: A Case Report.
Mikhaiel J, Parasram M, Park J, Cappucci S, McGuone D, Falcone G, Sheth K, Gilmore E. Rocky Mountain Spotted Fever Encephalitis and "Starry Sky" Pattern on MRI: A Case Report. The Neurologist 2024 PMID: 39382206, DOI: 10.1097/nrl.0000000000000586.Peer-Reviewed Original ResearchMagnetic resonance imagingPetechial rashCase reportDiffusion restrictionMagnetic resonance imaging brainMagnetic resonance imaging brain findingsRepeat MRI brainRocky Mountain spotted feverUrinary tract infectionFoci of diffusion restrictionRight centrum semiovaleProgression to comaPerivascular lymphocytic infiltrateDiffuse petechial rashTract infectionsClinical presentationViral cultureClinical improvementMRI brainLymphocytic infiltrationLumbar punctureSkin biopsiesElevated proteinNeurological manifestationsPunctate fociBSLM-10 MOLECULAR AND HISTOLOGICAL CHARACTERIZATION OF NSCLC PROGRESSION TO LEPTOMENINGEAL METASTASIS WITH COMORBID INTRAPARENCHYMAL DISEASE
Kandigian S, Chande S, Dolezal D, Tang T, Wang D, Arnal-Estapé A, Cheok S, McGuone D, Liu Y, Goldberg S, Blondin N, Chiang V, Nguyen D. BSLM-10 MOLECULAR AND HISTOLOGICAL CHARACTERIZATION OF NSCLC PROGRESSION TO LEPTOMENINGEAL METASTASIS WITH COMORBID INTRAPARENCHYMAL DISEASE. Neuro-Oncology Advances 2024, 6: i7-i7. PMCID: PMC11296776, DOI: 10.1093/noajnl/vdae090.020.Peer-Reviewed Original ResearchNon-small cell lung cancerLeptomeningeal diseaseCentral nervous systemLeptomeningeal metastasesParenchymal metastasesCerebrospinal fluidTumor cellsTyrosine kinase inhibitor treatmentCell lung cancerKinase inhibitor treatmentCerebrospinal fluid of patientsCell linesCerebral lateral ventriclesIntra-arterial injectionTGF-b signalingIn vivo passageIntraparenchymal diseaseMechanisms of progressionTumor microenvironmentMultiplex immunofluorescenceAggressive treatmentLeptomeningeal infiltrationPerivascular invasionIntraparenchymal metastasesMurine modelHeterozygous CDKN2A Loss is Associated with Recurrence and Survival in High, But Not Low Grade Meningiomas
Tabor J, O'Brien J, Valero S, Pappajohn A, McGuone D, Erson-Omay Z, Yasuno K, Gunel M, Moliterno J. Heterozygous CDKN2A Loss is Associated with Recurrence and Survival in High, But Not Low Grade Meningiomas. Neurosurgery 2024, 70: 203-203. DOI: 10.1227/neu.0000000000002810_112.Peer-Reviewed Original ResearchProgression-free survivalHigh-grade meningiomasOverall survivalNF2 mutationsDecreased PFSLow grade meningiomasWHO grading criteriaLow-grade meningiomasAssociated with recurrenceSomatic NF2 mutationsHigher recurrence rateSomatic driver mutationsAggressive clinical characteristicsIncreased chromosomal instabilityLoss of CDKN2A/BHigh-copy number variationCDKN2A mutationsCopy number variationsAggressive meningiomasLow-grade onesProliferative indexCDKN2A lossGrade meningiomasRecurrence rateMitotic countVariations 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 groupRaphe and ventrolateral medulla proteomics in sudden unexplained death in childhood with febrile seizure history
Leitner D, William C, Faustin A, Kanshin E, Snuderl M, McGuone D, Wisniewski T, Ueberheide B, Gould L, Devinsky O. Raphe and ventrolateral medulla proteomics in sudden unexplained death in childhood with febrile seizure history. Acta Neuropathologica 2024, 148: 76. PMID: 39607506, PMCID: PMC11604820, DOI: 10.1007/s00401-024-02832-9.Peer-Reviewed Original ResearchConceptsMedullary rapheSudden infant death syndromeVentrolateral medullaFebrile seizuresSudden unexplained deathWeighted gene correlation network analysisDorsal rapheUnexplained deathMidbrain dorsal rapheSUDC casesSignaling pathwayEukaryotic translation initiationGene Ontology biological processesSynaptic vesicle cycleLabel-free quantitative mass spectrometryEukaryotic translation elongationSudden unexpected deathGene correlation network analysisDifferential expression analysisDecreased cellular respirationFebrile seizure historyQuantitative mass spectrometryAutonomic dysfunctionCorrelation network analysisCoagulation system
2023
Backpack-mediated anti-inflammatory macrophage cell therapy for the treatment of traumatic brain injury
Kapate N, Liao R, Sodemann R, Stinson T, Prakash S, Kumbhojkar N, Suja V, Wang L, Flanz M, Rajeev R, Villafuerte D, Shaha S, Janes M, Park K, Dunne M, Golemb B, Hone A, Adebowale K, Clegg J, Slate A, McGuone D, Costine-Bartell B, Mitragotri S. Backpack-mediated anti-inflammatory macrophage cell therapy for the treatment of traumatic brain injury. PNAS Nexus 2023, 3: pgad434. PMID: 38187808, PMCID: PMC10768983, DOI: 10.1093/pnasnexus/pgad434.Peer-Reviewed Original ResearchTraumatic brain injuryBrain injuryAnti-inflammatory interleukin-4Cortical impact (CCI) TBI modelCell therapyAcute clinical managementDysregulated inflammatory responseSecondary brain injuryAnti-inflammatory phenotypeBrain lesion siteImmune cell therapyRole of macrophagesLarge animal modelUnique therapeutic potentialWound-healing phenotypeRampant inflammationProinflammatory biomarkersTBI modelImmunomodulatory effectsInflammation modulationCurrent therapiesMacrophage-based therapiesNeuroprotection mechanismsProinflammatory activationSerum concentrationsEPCO-47. HETEROZYGOUS CDKN2A LOSS IS ASSOCIATED WITH HIGHER RECURRENCE AND LOWER SURVIVAL IN HIGH-, BUT NOT LOW-GRADE MENINGIOMAS
Tabor J, Chavez M, O'Brien J, Morales-Valero S, Pappajohn A, McGuone D, Erson-Omay Z, Yasuno K, Gunel M, Moliterno J. EPCO-47. HETEROZYGOUS CDKN2A LOSS IS ASSOCIATED WITH HIGHER RECURRENCE AND LOWER SURVIVAL IN HIGH-, BUT NOT LOW-GRADE MENINGIOMAS. Neuro-Oncology 2023, 25: v134-v135. PMCID: PMC10639255, DOI: 10.1093/neuonc/noad179.0509.Peer-Reviewed Original ResearchProgression-free survivalShorter progression-free survivalHigh recurrence rateHigh-grade meningiomasCDKN2A/BOverall survivalRecurrence rateLow-grade meningiomasHeterozygous lossNF2 mutationsHigh mitotic countFree survivalMethods ClinicalSomatic NF2 mutationsClinical associationsLower OSHigh recurrenceLow-grade onesProliferative indexMitotic countAggressive meningiomasClinical implicationsMeningiomasPotential associationSkull baseA PILOT STUDY: SPATIOTEMPORALLY-RESOLVED MOLECULAR MECHANISMS OF ACUTE IMMUNE AND NEUROMODULATORY RESPONSES TO TRAUMATIC BRAIN INJURY
Mohammed F, Mcguone D, Omay S, Omay Z, Zhou J. A PILOT STUDY: SPATIOTEMPORALLY-RESOLVED MOLECULAR MECHANISMS OF ACUTE IMMUNE AND NEUROMODULATORY RESPONSES TO TRAUMATIC BRAIN INJURY. IBRO Neuroscience Reports 2023, 15: s189-s190. DOI: 10.1016/j.ibneur.2023.08.289.Peer-Reviewed Original ResearchThe clinical and genomic features of seizures in meningiomas
Dincer A, Jalal M, Gupte T, Vetsa S, Vasandani S, Yalcin K, Marianayagam N, Blondin N, Corbin Z, McGuone D, Fulbright R, Erson-Omay Z, Günel M, Moliterno J. The clinical and genomic features of seizures in meningiomas. Neuro-Oncology Advances 2023, 5: i49-i57. PMID: 37287582, PMCID: PMC10243847, DOI: 10.1093/noajnl/vdac110.Peer-Reviewed Original ResearchPeritumoral brain edemaPostoperative seizuresBrain invasionSubtotal resectionBrain edemaLarge residual tumor volumeCentral nervous system tumorsCommon central nervous system tumorPersistent postoperative seizuresResidual tumor volumeHistory of seizuresHigh tumor gradeNervous system tumorsQuality of lifePreoperative seizuresAtypical histologyMost patientsSurgical resectionCortical hyperexcitabilityUncontrolled seizuresAggressive featuresSeizure activityEpileptogenic focusCortical irritationRisk factorsClinical 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 meningiomasA systematic review and individual participant data meta-analysis of gonadal steroid hormone receptors in meningioma.
Miyagishima D, Sundaresan V, Gutierrez A, Barak T, Yeung J, Moliterno J, McGuone D, Claus E, Günel M. A systematic review and individual participant data meta-analysis of gonadal steroid hormone receptors in meningioma. Journal Of Neurosurgery 2023, 139: 1638-1647. PMID: 37243565, PMCID: PMC10226381, DOI: 10.3171/2023.3.jns221838.Peer-Reviewed Original ResearchConceptsIndividual participant dataHR statusProgesterone receptorAndrogen receptorEstrogen receptorHormone receptorsFemale patientsParticipant dataSystematic reviewGonadal steroid hormone receptorsRisk of biasGonadal steroid hormonesPubMed literature reviewProper patient stratificationSkull base locationSteroid hormone receptorsHormonal therapyER expressionUnduplicated articlesFemale sexGrade IIndependent associationPatient stratificationConvexity locationStudy heterogeneityClinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors—A prospective study and guidelines for clinical testing
Galbraith K, Vasudevaraja V, Serrano J, Shen G, Tran I, Abdallat N, Wen M, Patel S, Movahed-Ezazi M, Faustin A, Spino-Keeton M, Roberts L, Maloku E, Drexler S, Liechty B, Pisapia D, Krasnozhen-Ratush O, Rosenblum M, Shroff S, Boué D, Davidson C, Mao Q, Suchi M, North P, Hopp A, Segura A, Jarzembowski J, Parsons L, Johnson M, Mobley B, Samore W, McGuone D, Gopal P, Canoll P, Horbinski C, Fullmer J, Farooqi M, Gokden M, Wadhwani N, Richardson T, Umphlett M, Tsankova N, DeWitt J, Sen C, Placantonakis D, Pacione D, Wisoff J, Hidalgo E, Harter D, William C, Cordova C, Kurz S, Barbaro M, Orringer D, Karajannis M, Sulman E, Gardner S, Zagzag D, Tsirigos A, Allen J, Golfinos J, Snuderl M. Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors—A prospective study and guidelines for clinical testing. Neuro-Oncology Advances 2023, 5: vdad076. PMID: 37476329, PMCID: PMC10355794, DOI: 10.1093/noajnl/vdad076.Peer-Reviewed Original ResearchCNS tumorsProspective studyHistologic diagnosisCentral nervous system tumorsDiagnostic accuracyCentral nervous system cancerPrimary CNS tumorsNervous system tumorsNervous system cancersCancer-associated deathsClinical trial designDiagnostic errorsPrimary diagnostic methodDNA methylation profilingMolecular diagnostic testsPrognostic subclassificationPediatric patientsHistologic subtypeWhole genome DNA methylation profilingDefinitive diagnosisPrognostic informationSystem tumorsSystem cancersPatient managementClinical utility
2022
Genomic 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 profilingProteomic differences in hippocampus and cortex of sudden unexplained death in childhood
Leitner DF, William C, Faustin A, Askenazi M, Kanshin E, Snuderl M, McGuone D, Wisniewski T, Ueberheide B, Gould L, Devinsky O. Proteomic differences in hippocampus and cortex of sudden unexplained death in childhood. Acta Neuropathologica 2022, 143: 585-599. PMID: 35333953, PMCID: PMC8953962, DOI: 10.1007/s00401-022-02414-7.Peer-Reviewed Original ResearchConceptsSudden unexplained deathDentate gyrusFrontal cortexClinical historyCA1-3Unexplained deathBrain regionsSudden unexpected deathHippocampal dentate gyrusFebrile seizure historyAcute phase responseCause of deathYears of ageMechanism of deathCircumstances of deathSUDC casesMolecular signaling pathwaysClinical featuresSeizure historyPathological featuresMultiple etiologiesCornu ammonisUnexpected deathPreventive strategiesAncillary testingStaged endovascular treatment of a coexisting parasellar aneurysm and endoscopic resection of a pituitary macroadenoma: illustrative case
Nene A, Hong CS, McGuone D, Matouk CC, Omay SB. Staged endovascular treatment of a coexisting parasellar aneurysm and endoscopic resection of a pituitary macroadenoma: illustrative case. Journal Of Neurosurgery Case Lessons 2022, 3: case21699. PMID: 36130536, PMCID: PMC9379633, DOI: 10.3171/case21699.Peer-Reviewed Original ResearchMononeuritis multiplex as a rare and severe neurological complication of immune checkpoint inhibitors: a case report
Abdelhakim S, Klapholz JD, Roy B, Weiss SA, McGuone D, Corbin ZA. Mononeuritis multiplex as a rare and severe neurological complication of immune checkpoint inhibitors: a case report. Journal Of Medical Case Reports 2022, 16: 81. PMID: 35197122, PMCID: PMC8867751, DOI: 10.1186/s13256-022-03290-1.Peer-Reviewed Original ResearchConceptsImmune checkpoint inhibitorsMononeuritis multiplexCheckpoint inhibitorsCell death protein 1/Cytotoxic T-lymphocyte antigen-4Death ligand 1 (PD-L1) axisDeath protein 1/Immune checkpoint inhibitor therapyT-lymphocyte antigen-4Progressive leg weaknessCheckpoint inhibitor therapyProgressive neurologic dysfunctionSevere neurological complicationsAutoimmune peripheral neuropathyNon-Hispanic white femalesSevere side effectsLigand-1 axisChronic steroidsCombination ipilimumabConclusionsIncreased awarenessIntravenous immunoglobulinNeurological complicationsParaneoplastic syndromeAggressive treatmentInhibitor therapyTRAF7 Mutated Subgroups Differ in Sphenoid Wing Meningiomas with Hyperostosis
Jin L, Vetsa S, Vasandani S, Nadar A, Youngblood M, Gupte T, Barak T, Yalcin K, Aguilera S, Mishra-Gorur K, Blondin N, Gorelick E, Omay S, Pointdujour-Lim R, Judson B, Alperovich M, Aboian M, Marianayagam N, McGuone D, Gunel M, Erson-Omay Z, Fulbright R, Moliterno J. TRAF7 Mutated Subgroups Differ in Sphenoid Wing Meningiomas with Hyperostosis. Journal Of Neurological Surgery Part B Skull Base 2022, 83: s1-s270. DOI: 10.1055/s-0042-1743640.Peer-Reviewed Original ResearchNeuropathology of Chiari Malformation II with Chromosome X Alterations: An Autopsy Study in a 17-Month-Old and Review of Literature
Wang X, Habet V, Aboian M, Leelatian N, McGuone D, Morotti R, Kandil S, Darbinyan A. Neuropathology of Chiari Malformation II with Chromosome X Alterations: An Autopsy Study in a 17-Month-Old and Review of Literature. Journal Of Neuropathology & Experimental Neurology 2022, 81: 296-298. PMID: 35139536, DOI: 10.1093/jnen/nlab137.Peer-Reviewed Original Research