2023
Vascular 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 resection
2022
P11.46.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 alterationsCohortCross-platform analysis reveals cellular and molecular landscape of glioblastoma invasion
Chen AT, Xiao Y, Tang X, Baqri M, Gao X, Reschke M, Sheu WC, Long G, Zhou Y, Deng G, Zhang S, Deng Y, Bai Z, Kim D, Huttner A, Kunes R, Günel M, Moliterno J, Saltzman WM, Fan R, Zhou J. Cross-platform analysis reveals cellular and molecular landscape of glioblastoma invasion. Neuro-Oncology 2022, 25: 482-494. PMID: 35901838, PMCID: PMC10013636, DOI: 10.1093/neuonc/noac186.Peer-Reviewed Original ResearchConceptsCrystallin alpha BTumor invasionGBM invasionHistology samplesMolecular landscapeTreatment of glioblastomaPostoperative recurrenceGBM patientsInvasive glioblastomaResection modelGlioblastomaNon-invasive counterpartsGBM samplesGlioblastoma invasionCD44PatientsInvasionAlpha BCellular levelTranscriptomic featuresRNA sequencing dataRecurrenceHistology stainsLevelsDisease
2021
Exome sequencing identifies SLIT2 variants in primary CNS lymphoma
Kaulen LD, Erson‐Omay E, Henegariu O, Karschnia P, Huttner A, Günel M, Baehring JM. Exome sequencing identifies SLIT2 variants in primary CNS lymphoma. British Journal Of Haematology 2021, 193: 375-379. PMID: 33481259, DOI: 10.1111/bjh.17319.Peer-Reviewed Original ResearchConceptsPrimary central nervous system lymphomaShorter progression-free survivalCentral nervous system lymphomaRole of SLIT2Primary CNS lymphomaProgression-free survivalLarger validation cohortNervous system lymphomaShorter overall survivalPossible prognostic implicationsWarrants further investigationCNS lymphomaTumor DNA samplesOverall survivalPCNSL patientsSystem lymphomaPrognostic implicationsValidation cohortPCNSL pathogenesisLymphoid malignanciesFunction variantsTumor suppressor geneExome sequencingLuciferase assayLymphomaNeuroinvasion of SARS-CoV-2 in human and mouse brain
Song E, Zhang C, Israelow B, Lu-Culligan A, Prado AV, Skriabine S, Lu P, Weizman OE, Liu F, Dai Y, Szigeti-Buck K, Yasumoto Y, Wang G, Castaldi C, Heltke J, Ng E, Wheeler J, Alfajaro MM, Levavasseur E, Fontes B, Ravindra NG, Van Dijk D, Mane S, Gunel M, Ring A, Kazmi SAJ, Zhang K, Wilen CB, Horvath TL, Plu I, Haik S, Thomas JL, Louvi A, Farhadian SF, Huttner A, Seilhean D, Renier N, Bilguvar K, Iwasaki A. Neuroinvasion of SARS-CoV-2 in human and mouse brain. Journal Of Experimental Medicine 2021, 218: e20202135. PMID: 33433624, PMCID: PMC7808299, DOI: 10.1084/jem.20202135.Peer-Reviewed Original ResearchConceptsSARS-CoV-2Central nervous systemSARS-CoV-2 neuroinvasionImmune cell infiltratesCOVID-19 patientsType I interferon responseMultiple organ systemsCOVID-19I interferon responseHuman brain organoidsNeuroinvasive capacityCNS infectionsCell infiltrateNeuronal infectionPathological featuresCortical neuronsRespiratory diseaseDirect infectionCerebrospinal fluidNervous systemMouse brainInterferon responseOrgan systemsHuman ACE2Infection
2020
Clinical and genomic factors associated with seizures in meningiomas.
Gupte TP, Li C, Jin L, Yalcin K, Youngblood MW, Miyagishima DF, Mishra-Gorur K, Zhao AY, Antonios J, Huttner A, McGuone D, Blondin NA, Contessa JN, Zhang Y, Fulbright RK, Gunel M, Erson-Omay Z, Moliterno J. Clinical and genomic factors associated with seizures in meningiomas. Journal Of Neurosurgery 2020, 135: 835-844. PMID: 33276341, DOI: 10.3171/2020.7.jns201042.Peer-Reviewed Original ResearchPreoperative seizuresPostoperative seizuresAtypical histologyMultivariate analysisWorse progression-free survivalGenomic subgroupsYale-New Haven HospitalAssociation of seizuresAntiepileptic drug useProgression-free survivalSeizure-free patientsGross total resectionExtent of resectionMultiple risk factorsNF2 mutationsNew Haven HospitalLogistic regression modelsPostoperative radiationSeizure freedomClinical courseSeizure presentationSomatic NF2 mutationsBrain invasionRecurrent tumorsRisk factorsAssociations 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 ResearchConceptsDivergent 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 hazardsWhole Exome Sequencing Identifies Novel SLIT2 Mutations in Primary CNS Lymphoma (3962)
Kaulen L, Erson-Omay E, Henegariu O, Karschnia P, Huttner A, Gunel M, Baehring J. Whole Exome Sequencing Identifies Novel SLIT2 Mutations in Primary CNS Lymphoma (3962). Neurology 2020, 94 DOI: 10.1212/wnl.94.15_supplement.3962.Peer-Reviewed Original Research
2018
P04.60 Genomic profile of tumorigenesis in a patient with Turcot syndrome
Karschnia P, Erson-Omay E, Huttner A, Fulbright R, Günel M, Baehring J. P04.60 Genomic profile of tumorigenesis in a patient with Turcot syndrome. Neuro-Oncology 2018, 20: iii293-iii293. PMCID: PMC6143975, DOI: 10.1093/neuonc/noy139.294.Peer-Reviewed Original ResearchWhole-exome sequencingEndometrial carcinomaTurcot syndromeBrain tumorsMicrosatellite instabilityMMR genesSecond hitSomatic missense mutationsMissense mutationsLeft frontal tumorPrimary brain tumorsPatient's brain tumorMismatch repair deficiencyMMR-deficient tumorsExpression of MSH6Heterozygous germline mutationsHeterozygous germline missense mutationRight hemiparesisSubtotal resectionUterine adenocarcinomaMetachronous tumorsFrontal tumorGermline missense mutationAbdominal tumorsFamily historyDe novo MYH9 mutation in congenital scalp hemangioma
Fomchenko EI, Duran D, Jin SC, Dong W, Erson-Omay EZ, Antwi P, Allocco A, Gaillard JR, Huttner A, Gunel M, DiLuna ML, Kahle KT. De novo MYH9 mutation in congenital scalp hemangioma. Molecular Case Studies 2018, 4: a002998. PMID: 29903892, PMCID: PMC6071566, DOI: 10.1101/mcs.a002998.Peer-Reviewed Original Research
2015
Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis
Erson-Omay EZ, Çağlayan AO, Schultz N, Weinhold N, Omay SB, Özduman K, Köksal Y, Li J, Serin Harmancı A, Clark V, Carrión-Grant G, Baranoski J, Çağlar C, Barak T, Coşkun S, Baran B, Köse D, Sun J, Bakırcıoğlu M, Moliterno Günel J, Pamir MN, Mishra-Gorur K, Bilguvar K, Yasuno K, Vortmeyer A, Huttner AJ, Sander C, Günel M. Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis. Neuro-Oncology 2015, 17: 1356-1364. PMID: 25740784, PMCID: PMC4578578, DOI: 10.1093/neuonc/nov027.Peer-Reviewed Original ResearchConceptsHigh-grade gliomasSomatic POLE mutationsPOLE mutationsMalignant high-grade gliomasLonger progression-free survivalProgression-free survivalSomatic mutationsOverall survivalPediatric patientsBetter prognosisClinical featuresImproved prognosisClinical behaviorImmune cellsBizarre cellsAggressive formGlioblastoma multiformeDisease pathophysiologyMolecular subgroupsHomozygous germline mutationGermline mutationsPrognosisGlioma subtypesComprehensive genomic analysisDistinct subgroups