2024
P27.10.B FACTORS INFLUENCING TIMELY DIAGNOSIS IN NEUROLYMPHOMATOSIS
Doubrovinskaia S, Egert A, Karschnia P, Scheffler G, Huttner A, Fulbright R, Baehring J, Kaulen L. P27.10.B FACTORS INFLUENCING TIMELY DIAGNOSIS IN NEUROLYMPHOMATOSIS. Neuro-Oncology 2024, 26: v138-v139. PMCID: PMC11485484, DOI: 10.1093/neuonc/noae144.472.Peer-Reviewed Original ResearchNon-Hodgkin's lymphomaPeripheral nervous systemNerve root lesionsDiagnostic intervalRelapse of NHLSymptom onsetAssociated with early diagnosisTertiary referral centerAtypical clinical presentationRoot lesionsCerebrospinal fluid examinationDiagnostic work-upYale Cancer CenterPainful polyneuropathyAsymmetric neuropathyClinical presentationReferral centerFluid examinationQuality control databaseDiagnostic delayFDG-PETPrimary diseaseUnivariate analysisConventional CTNeurolymphomatosisFactors influencing timely diagnosis in neurolymphomatosis
Doubrovinskaia S, Egert A, Karschnia P, Scheffler G, Traub B, Galluzzo D, Huttner A, Fulbright R, Baehring J, Kaulen L. Factors influencing timely diagnosis in neurolymphomatosis. Journal Of Neuro-Oncology 2024, 1-9. PMID: 39115616, DOI: 10.1007/s11060-024-04792-2.Peer-Reviewed Original ResearchNon-Hodgkin's lymphomaPeripheral nervous systemDiagnostic intervalNon-Hodgkin lymphoma diagnosisSymptom onset to diagnosisCerebrospinal fluid examinationYale Cancer CenterPainful polyneuropathyAsymmetric neuropathyRare entityMedian intervalFluid examinationQuality control databaseDelayed diagnosisPrimary diseaseUnivariate analysisConventional CTDisease sitesNeurolymphomatosisNeuro-oncologyCancer CenterSecondary diseaseImaging modalitiesNeuroimaging findingsDiagnosisSingle-Cell Transcriptomic Analyses of Brain Parenchyma in Patients With New-Onset Refractory Status Epilepticus (NORSE)
Hanin A, Zhang L, Huttner A, Plu I, Mathon B, Bielle F, Navarro V, Hirsch L, Hafler D. Single-Cell Transcriptomic Analyses of Brain Parenchyma in Patients With New-Onset Refractory Status Epilepticus (NORSE). Neurology Neuroimmunology & Neuroinflammation 2024, 11: e200259. PMID: 38810181, PMCID: PMC11139018, DOI: 10.1212/nxi.0000000000200259.Peer-Reviewed Original ResearchConceptsNew-onset refractory status epilepticusTemporal lobe epilepsyGABAergic neuronsExcitatory neuronsInfiltrating macrophagesProportion of GABAergic neuronsChronic temporal lobe epilepsyRefractory status epilepticusInhibitory GABAergic neuronsSingle-cell transcriptome analysisDecreased expression of genesDegree of demyelinationImmune disturbancesNeuronal excitabilityImmune dysregulationNew-onsetStatus epilepticusPoor outcomeRefractory epilepsyHealthy childrenMicroglial reactivitySingle-nucleus RNA sequencingNLRP3 inflammasome activationInflammatory responseLobe epilepsy
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 imagesChromosome instability and aneuploidy in the mammalian brain
Albert O, Sun S, Huttner A, Zhang Z, Suh Y, Campisi J, Vijg J, Montagna C. Chromosome instability and aneuploidy in the mammalian brain. Chromosome Research 2023, 31: 32. PMID: 37910282, PMCID: PMC10833588, DOI: 10.1007/s10577-023-09740-w.Peer-Reviewed Original ResearchConceptsChromosome instabilityExcess of chromosomesRole of aneuploidyNon-transformed cellsSomatic tissuesDiploid setChromosomal countsAneuploid cellsChromosomal alterationsMammalian brainCancer cellsAneuploidyCellsAging processChromosomesDevelopmental disordersPresent understandingSpecific consequencesDNAValuable insightsFuture research effortsBroad rangeHallmarkStructural modificationsIntrathecal delivery of nanoparticle PARP inhibitor to the cerebrospinal fluid for the treatment of metastatic medulloblastoma
Khang M, Lee J, Lee T, Suh H, Lee S, Cavaliere A, Rushing A, Geraldo L, Belitzky E, Rossano S, de Feyter H, Shin K, Huttner A, Roussel M, Thomas J, Carson R, Marquez-Nostra B, Bindra R, Saltzman W. Intrathecal delivery of nanoparticle PARP inhibitor to the cerebrospinal fluid for the treatment of metastatic medulloblastoma. Science Translational Medicine 2023, 15: eadi1617. PMID: 37910601, PMCID: PMC11078331, DOI: 10.1126/scitranslmed.adi1617.Peer-Reviewed Original ResearchConceptsCerebrospinal fluidDelivery of drugsEffective therapyTherapeutic indexPARP inhibitorsBlood-brain barrierSite of tumorRapid systemic clearanceXenograft mouse modelSolvent evaporation processAdministration of substancesLeptomeningeal spreadIntrathecal deliveryLeptomeningeal metastasesBrain penetrationSystemic clearanceTumor regressionPolymer nanoparticlesMetastatic medulloblastomaMouse modelPediatric medulloblastomaDrug accumulationCSF turnoverEncapsulated drugsPET imagingP13.02.A 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 Z, 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. P13.02.A APPLICATION OF NOVEL PACS-BASED INFORMATICS PLATFORM TO IDENTIFY IMAGING BASED PREDICTORS OF CDKN2A ALLELIC STATUS IN GLIOBLASTOMAS. Neuro-Oncology 2023, 25: ii100-ii101. PMCID: PMC10489329, DOI: 10.1093/neuonc/noad137.336.Peer-Reviewed Original ResearchImaging featuresPial invasionQualitative imaging biomarkersQualitative imaging featuresWorse prognosisImaging biomarkersCDKN2A mutationsMethods Sixty-nine patientsCDKN2A alterationsHomozygous deletionHeterozygous lossSixty-nine patientsDeep white matterDeep white matter invasionGBM molecular subtypesWhole-exome sequencingNine patientsGBM resectionRadiographic evidenceMolecular subtypesBACKGROUND GliomasWhite matterAllele statusNoninvasive identificationGliomasP13.05.B INCORPORATION OF AI-BASED AUTOSEGMENTATION AND CLASSIFICATION INTO NEURORADIOLOGY WORKFLOW: PACS-BASED AI TO BUILD YALE GLIOMA DATASET
Tillmanns N, Lost J, Merkaj S, von Reppert M, Chadha S, Lin M, Bousabarah K, Huttner A, Aneja S, Avesta A, Omuro A, Aboian M. P13.05.B INCORPORATION OF AI-BASED AUTOSEGMENTATION AND CLASSIFICATION INTO NEURORADIOLOGY WORKFLOW: PACS-BASED AI TO BUILD YALE GLIOMA DATASET. Neuro-Oncology 2023, 25: ii101-ii101. PMCID: PMC10489908, DOI: 10.1093/neuonc/noad137.339.Peer-Reviewed Original ResearchThe Yale Glioma Dataset: Developing An Open Access, Annotated MRI Database
Sala M, Lost J, Tillmanns N, Merkaj S, von Reppert M, Ramakrishnan D, Bousabarah K, Huttner A, Aneja S, Avesta A, Omuro A, Aboian M. The Yale Glioma Dataset: Developing An Open Access, Annotated MRI Database. Proceedings Of The International Society For Magnetic Resonance In Medicine ... Scientific Meeting And Exhibition. 2023 DOI: 10.58530/2023/4511.Peer-Reviewed Original ResearchNeuropathology of New-Onset Refractory Status Epilepticus (NORSE)
Hanin A, Cespedes J, Huttner A, Strelnikov D, Gopaul M, DiStasio M, Vezzani A, Hirsch L, Aronica E. Neuropathology of New-Onset Refractory Status Epilepticus (NORSE). Journal Of Neurology 2023, 270: 3688-3702. PMID: 37079033, DOI: 10.1007/s00415-023-11726-x.Peer-Reviewed Original ResearchConceptsNew-onset refractory status epilepticusCryptogenic new-onset refractory status epilepticusRefractory status epilepticusNeuropathology findingsStatus epilepticusSecondary neuronal injuryCryptogenic casesFebrile illnessNeuronal injuryExtensive workupNeuropathological evaluationEpilepsy surgeryPathophysiological mechanismsUnknown causePatient managementLong-term consequencesSevere formSpecific treatmentEpilepticusTissue samplesBiopsyPatientsFindings of studiesAutopsiesFindingsReview and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus
Hanin A, Cespedes J, Pulluru Y, Gopaul M, Aronica E, Decampo D, Helbig I, Howe C, Huttner A, Koh S, Navarro V, Taraschenko O, Vezzani A, Wilson M, Xian J, Gaspard N, Hirsch L. Review and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus. Epilepsia 2023, 64: 1444-1457. PMID: 37039049, PMCID: PMC10756682, DOI: 10.1111/epi.17600.Peer-Reviewed Original ResearchConceptsNew-onset refractory status epilepticusFebrile infection-related epilepsy syndromeRefractory status epilepticusStatus epilepticusCollection of biospecimensManagement of patientsStatus epilepticus patientsBetter clinical managementDisease-specific therapiesFebrile illnessStudy cohortEpilepsy syndromesOutcome endpointsStandard operating proceduresClinical managementRare conditionSevere formAnalysis of biomarkersPatientsMulticenter researchEpilepticusSpecific biomarkersExact causeSmall sample sizeBiospecimen collectionVascular 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 resectionAnti-seed PNAs targeting multiple oncomiRs for brain tumor therapy
Wang Y, Malik S, Suh H, Xiao Y, Deng Y, Fan R, Huttner A, Bindra R, Singh V, Saltzman W, Bahal R. Anti-seed PNAs targeting multiple oncomiRs for brain tumor therapy. Science Advances 2023, 9: eabq7459. PMID: 36753549, PMCID: PMC9908025, DOI: 10.1126/sciadv.abq7459.Peer-Reviewed Original ResearchConceptsConvection-enhanced deliveryHigh recurrence rateOrthotopic mouse modelBrain tumor therapyTreatment of glioblastomaRecurrence ratePoor survivalLethal malignancyMouse modelGBM progressionTumor cellsGlioblastomaTumor therapyBioadhesive nanoparticlesOncomiRSurvivalTreatmentSeed regionMalignancyTemozolomideTherapy
2022
NIMG-20. INCORPORATION OF AI-BASED AUTOSEGMENTATION AND CLASSIFICATION INTO NEURORADIOLOGY WORKFLOW: PACS-BASED AI TO BUILD YALE GLIOMA DATASET
Lost J, Tillmans N, Merkaj S, von Reppert M, Lin M, Bousabarah K, Huttner A, Aneja S, Omuro A, Aboian M, Avesta A. NIMG-20. INCORPORATION OF AI-BASED AUTOSEGMENTATION AND CLASSIFICATION INTO NEURORADIOLOGY WORKFLOW: PACS-BASED AI TO BUILD YALE GLIOMA DATASET. Neuro-Oncology 2022, 24: vii165-vii166. DOI: 10.1093/neuonc/noac209.638.Peer-Reviewed Original ResearchP11.46.A Whole exome sequencing identifies novel SLIT2 mutations in primary CNS lymphoma
Kaulen L, Erson-Omay E, Henegariu O, Karschnia P, Huttner A, Günel M, Baehring J. P11.46.A Whole exome sequencing identifies novel SLIT2 mutations in primary CNS lymphoma. Neuro-Oncology 2022, 24: ii68-ii68. PMCID: PMC9443199, DOI: 10.1093/neuonc/noac174.235.Peer-Reviewed Original ResearchPrimary CNS lymphomaCNS lymphomaOverall survivalExtension cohortEpstein-Barr virus statusKaplan-Meier methodLog-rank testCBio Cancer Genomics PortalReporter luciferase assaysFree survivalShorter OSTumor DNA samplesPCNSL patientsClinical outcomesShorter PFSSomatic insertions/deletionsVirus statusFavorable outcomeLymphoid malignanciesClinical observationsTumor tissuePersonalized careCDKN2A lossCopy number alterationsCohortP11.54.A Factors effecting early diagnosis in neurolymphomatosis
Egert A, Karschnia P, Huttner A, Baehring J, Kaulen L. P11.54.A Factors effecting early diagnosis in neurolymphomatosis. Neuro-Oncology 2022, 24: ii70-ii70. PMCID: PMC9443184, DOI: 10.1093/neuonc/noac174.243.Peer-Reviewed Original ResearchNon-Hodgkin lymphomaEarly diagnosisSymptom onsetPathological findingsDiffuse large B-cell lymphomaCase of neurolymphomatosisDiagnosis of neurolymphomatosisYale Cancer CenterTertiary referral centerFDG-PET imagingPeripheral nervous systemB-cell lymphomaImaging gold standardSPSS version 27Painful polyneuropathyPainless polyneuropathySecondary neurolymphomatosisAutonomic neuropathyCranial neuropathiesMedian intervalReferral centerAutonomic nervesClinical suspicionFDG-PETCancer CenterThe changing landscape in epilepsy imaging: Unmasking subtle and unique entities
Adin ME, Department of Radiology and Biomedical Imaging Y, Durand D, Zucconi W, Huttner A, Spencer D, Bronen R, Department of Radiology Abbott Northwestern Hospital M, Department of Pathology Y, Department of Neurosurgery Y. The changing landscape in epilepsy imaging: Unmasking subtle and unique entities. Diagnostic And Interventional Radiology 2022, 28: 503-515. PMID: 35997478, PMCID: PMC9682800, DOI: 10.5152/dir.2022.21339.Peer-Reviewed Original ResearchConceptsHippocampal sclerosisCortical developmentLocalization-related epilepsyTemporal lobe encephaloceleFocal cortical dysplasiaFocal cortical dysplasia IIbField of epilepsyEpileptogenic abnormalitiesAutoimmune encephalitisRasmussen's encephalitisCommon etiologyCortical dysplasiaEpilepsy surgeryEpileptogenic substrateTuberous sclerosisEpilepsy imagingHippocampal malformationsMTOR pathwayEncephalitisSclerosisMR imagingMalformationsUnique entitySurgeryEpilepsySpectrum 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 alterationsPatientsHippocampusCellular recovery after prolonged warm ischaemia of the whole body
Andrijevic D, Vrselja Z, Lysyy T, Zhang S, Skarica M, Spajic A, Dellal D, Thorn SL, Duckrow RB, Ma S, Duy PQ, Isiktas AU, Liang D, Li M, Kim SK, Daniele SG, Banu K, Perincheri S, Menon MC, Huttner A, Sheth KN, Gobeske KT, Tietjen GT, Zaveri HP, Latham SR, Sinusas AJ, Sestan N. Cellular recovery after prolonged warm ischaemia of the whole body. Nature 2022, 608: 405-412. PMID: 35922506, PMCID: PMC9518831, DOI: 10.1038/s41586-022-05016-1.Peer-Reviewed Original ResearchConceptsSingle-nucleus transcriptomic analysesSpecific gene expression patternsCellular recoveryGene expression patternsCellular processesMammalian cellsTranscriptomic analysisLarge mammalsExpression patternsCellular repair processesCell deathComprehensive resourceUnderappreciated potentialPhysiological challengesTissue integrityRepair processSpecific changesPorcine brainMammalsOrgansMultiple organsAnalysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
Bae T, Fasching L, Wang Y, Shin JH, Suvakov M, Jang Y, Norton S, Dias C, Mariani J, Jourdon A, Wu F, Panda A, Pattni R, Chahine Y, Yeh R, Roberts RC, Huttner A, Kleinman JE, Hyde TM, Straub RE, Walsh CA, Urban A, Leckman J, Weinberger D, Vaccarino F, Abyzov A, Walsh C, Park P, Sestan N, Weinberger D, Moran J, Gage F, Vaccarino F, Gleeson J, Mathern G, Courchesne E, Roy S, Chess A, Akbarian S, Bizzotto S, Coulter M, Dias C, D’Gama A, Ganz J, Hill R, Huang A, Khoshkhoo S, Kim S, Lee A, Lodato M, Maury E, Miller M, Borges-Monroy R, Rodin R, Zhou Z, Bohrson C, Chu C, Cortes-Ciriano I, Dou Y, Galor A, Gulhan D, Kwon M, Luquette J, Sherman M, Viswanadham V, Jones A, Rosenbluh C, Cho S, Langmead B, Thorpe J, Erwin J, Jaffe A, McConnell M, Narurkar R, Paquola A, Shin J, Straub R, Abyzov A, Bae T, Jang Y, Wang Y, Molitor C, Peters M, Linker S, Reed P, Wang M, Urban A, Zhou B, Zhu X, Pattni R, Serres Amero A, Juan D, Lobon I, Marques-Bonet T, Solis Moruno M, Garcia Perez R, Povolotskaya I, Soriano E, Antaki D, Averbuj D, Ball L, Breuss M, Yang X, Chung C, Emery S, Flasch D, Kidd J, Kopera H, Kwan K, Mills R, Moldovan J, Sun C, Zhao X, Zhou W, Frisbie T, Cherskov A, Fasching L, Jourdon A, Pochareddy S, Scuderi S. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science 2022, 377: 511-517. PMID: 35901164, PMCID: PMC9420557, DOI: 10.1126/science.abm6222.Peer-Reviewed Original ResearchConceptsTranscription factorsSomatic mutationsPutative transcription factorEnhancer-like regionSingle nucleotide mutationsWhole-genome sequencingGene regulationSomatic duplicationGenome sequencingDamaging mutationsBackground mutagenesisMutationsHypermutabilityClonal expansionMotifDiseased brainPotential linkVivo clonal expansionMutagenesisGenesDuplicationSequencingRegulation