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 imagesVascular 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
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 alterationsPatientsHippocampus
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 hazardsGenomic alterations in Turcot syndrome: Insights from whole exome sequencing
Karschnia P, Erson-Omay EZ, Huttner AJ, Kaulen LD, Duran D, Fulbright RK, Günel M, Baehring JM. Genomic alterations in Turcot syndrome: Insights from whole exome sequencing. Journal Of The Neurological Sciences 2020, 417: 117056. PMID: 32739502, DOI: 10.1016/j.jns.2020.117056.Peer-Reviewed Original ResearchThe Clinical Implications of Spontaneous Hemorrhage in Vestibular Schwannomas
Hong CS, Jin L, David WB, Shear B, Zhao AY, Zhang Y, Erson-Omay EZ, Fulbright RK, Huttner A, Kveton J, Moliterno J. The Clinical Implications of Spontaneous Hemorrhage in Vestibular Schwannomas. Journal Of Neurological Surgery Part B Skull Base 2020, 82: e22-e32. PMID: 34306914, PMCID: PMC8289498, DOI: 10.1055/s-0040-1701676.Peer-Reviewed Original ResearchExtent of resectionVestibular schwannomaFacial weaknessSpontaneous hemorrhageLarge tumorsManagement of VSRetrospective case review seriesThin-walled vascular channelsBlood-thinning medicationHemorrhagic vestibular schwannomaPreoperative facial weaknessHalf of patientsFacial nerve dysfunctionRelevant clinical factorsPatient health outcomesRapid symptom onsetHigh mortality rateCase review seriesFacial numbnessNerve dysfunctionPerioperative mortalityClinical factorsSymptom onsetBenign pathologyPoor prognosis
2019
Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report.
Fomchenko EI, Erson-Omay EZ, Kundishora AJ, Hong CS, Daniel AA, Allocco A, Duy PQ, Darbinyan A, Marks AM, DiLuna ML, Kahle KT, Huttner A. Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report. Journal Of Neurosurgery Pediatrics 2019, 25: 121-130. PMID: 31653819, DOI: 10.3171/2019.8.peds18664.Peer-Reviewed Original ResearchPineal parenchymal tumorsPediatric midline gliomasWhole-exome sequencingH3K27M mutationParenchymal tumorsIntermediate differentiationMidline gliomaM mutationClonality analysisTumors harbored mutationsHigh-grade lesionsCurative surgical optionVaried morphological appearancesChromosome 17 lossSomatic mutationsSpinal metastasesClinical presentationDismal prognosisSpine metastasesSurgical managementSurgical optionsMidline tumorsCase reportHarbored mutationsNF1 lossCorrelations between genomic subgroup and clinical features in a cohort of more than 3000 meningiomas.
Youngblood MW, Duran D, Montejo JD, Li C, Omay SB, Özduman K, Sheth AH, Zhao AY, Tyrtova E, Miyagishima DF, Fomchenko EI, Hong CS, Clark VE, Riche M, Peyre M, Boetto J, Sohrabi S, Koljaka S, Baranoski JF, Knight J, Zhu H, Pamir MN, Avşar T, Kilic T, Schramm J, Timmer M, Goldbrunner R, Gong Y, Bayri Y, Amankulor N, Hamilton RL, Bilguvar K, Tikhonova I, Tomak PR, Huttner A, Simon M, Krischek B, Kalamarides M, Erson-Omay EZ, Moliterno J, Günel M. Correlations between genomic subgroup and clinical features in a cohort of more than 3000 meningiomas. Journal Of Neurosurgery 2019, 133: 1345-1354. PMID: 31653806, DOI: 10.3171/2019.8.jns191266.Peer-Reviewed Original ResearchClinical featuresGenomic subgroupsExact testAnterior skull base regionElevated Ki-67 indexLarge peritumoral brain edemaPeritumoral brain edemaKi-67 indexModerate predictive valueFisher's exact testRelevant clinical informationMicrocystic featuresNF2 meningiomasInvasive sampling proceduresMale patientsBrain edemaFemale sexTumor locationPatient variablesDiscovery cohortSkull base regionMidline locationPatient featuresClinical informationPredictive valueDNMT3A co-mutation in an IDH1-mutant glioblastoma
Fomchenko EI, Erson-Omay EZ, Zhao A, Bindra RS, Huttner A, Fulbright RK, Moliterno J. DNMT3A co-mutation in an IDH1-mutant glioblastoma. Molecular Case Studies 2019, 5: a004119. PMID: 31371348, PMCID: PMC6672028, DOI: 10.1101/mcs.a004119.Peer-Reviewed Original ResearchMeSH KeywordsAdultBiomarkers, TumorBrain NeoplasmsDNA (Cytosine-5-)-MethyltransferasesDNA MethylationDNA Methyltransferase 3ADNA Modification MethylasesEpigenesis, GeneticGene Expression ProfilingGene Expression Regulation, NeoplasticGlioblastomaGliomaHumansIsocitrate DehydrogenaseMaleMutationMutation, MissensePromoter Regions, GeneticConceptsIDH1-mutant glioblastomaEpigenetic controlHistone modificationsTranscriptional regulationDNA methylationExpression profilesGlioblastoma biologySomatic mutationsDe novoMutationsMutant glioblastomasTumor landscapeMutational profileTargeted therapeutic approachesGlioblastomaImportant roleMethylationDNMT3ABiologyGliomagenesisMissenseRegulationNovoPrimary brain tumorsTherapeutic approaches
2018
De 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