2021
Comprehensive 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 targetingPATH-38. APC MUTATION AS A DRIVER ONCOGENE IN NON-CTNNB1 MUTANT ADAMANTINOMATOUS CRANIOPHARYNGIOMAS
Hong C, Erson-Omay Z, Omay S. PATH-38. APC MUTATION AS A DRIVER ONCOGENE IN NON-CTNNB1 MUTANT ADAMANTINOMATOUS CRANIOPHARYNGIOMAS. Neuro-Oncology 2021, 23: vi123-vi123. PMCID: PMC8598823, DOI: 10.1093/neuonc/noab196.490.Peer-Reviewed Original ResearchAdamantinomatous craniopharyngiomaInstitutional review board-approved protocolCTNNB1 mutationsFamilial adenomatous polyposisWhole-exome sequencingAPC mutationsNeurological deficitsVentricular involvementOptic apparatusClassic subtypeStop codon mutationMalignant tumorsThird ventricleBRAF inhibitorsCraniopharyngeal ductDriver oncogenesTherapeutic strategiesMAP kinase/ERKCraniopharyngiomaGermline APC mutationsPapillary craniopharyngiomasPituitary glandAdenomatous polyposisPathogenic variantsEmbryonic remnantsNIMG-64. TYPE OF BONY INVOLVEMENT PREDICTS GENOMIC SUBGROUP IN SPHENOID WING MENINGIOMAS
Jin L, Youngblood M, Gupte T, Vetsa S, Nadar A, Barak T, Yalcin K, Aguilera S, Mishra-Gorur K, Blondin N, Omay S, Pointdujour-Lim R, Judson B, Alperovich M, Aboian M, McGuone D, Gunel M, Erson-Omay Z, Fulbright R, Moliterno J. NIMG-64. TYPE OF BONY INVOLVEMENT PREDICTS GENOMIC SUBGROUP IN SPHENOID WING MENINGIOMAS. Neuro-Oncology 2021, 23: vi144-vi144. PMCID: PMC8598770, DOI: 10.1093/neuonc/noab196.562.Peer-Reviewed Original ResearchSphenoid wing meningiomaSpheno-orbital meningiomasBony involvementTRAF7 mutationsTumor invasionGenomic subgroupsPre-operative clinical featuresYale-New Haven HospitalAdditional clinical variablesSubset of tumorsPre-operative predictionLogistic regression modelsWhole-exome sequencingClinical featuresClinical variablesGrade IIPredictive logistic regression modelRecurrence patternsMolecular subtypesClinical implicationsExome sequencingHyperostosisMeningiomasTumorsGenomic driversPIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma
Hong C, Khan M, Sukys J, Prasad M, Erson-Omay EZ, Vining E, Omay SB. PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma. Molecular Case Studies 2021, 8: mcs.a006120. PMID: 34667073, PMCID: PMC8744496, DOI: 10.1101/mcs.a006120.Peer-Reviewed Original ResearchConceptsCase of glomangiopericytomaWhole-exome sequencingInstitutional review board-approved protocolTargeted medical therapyUnderwent surgical resectionPI3K/Akt/mTORWnt/β-cateninAkt/mTORPrimary sinonasal tumorSurgical resectionClinicopathologic characteristicsMedical therapyRare tumorPIK3CA mutationsSinonasal tumorsGlomangiopericytomaTumorsΒ-cateninSomatic mutationsComprehensive genetic characterizationGenomic characterizationMutationsConcurrent dysregulationResectionSinonasalType of bony involvement predicts genomic subgroup in sphenoid wing meningiomas
Jin L, Youngblood MW, Gupte TP, Vetsa S, Nadar A, Barak T, Yalcin K, Aguilera SM, Mishra-Gorur K, Blondin NA, Gorelick E, Omay SB, Pointdujour-Lim R, Judson BL, Alperovich M, Aboian MS, McGuone D, Gunel M, Erson-Omay Z, Fulbright RK, Moliterno J. Type of bony involvement predicts genomic subgroup in sphenoid wing meningiomas. Journal Of Neuro-Oncology 2021, 154: 237-246. PMID: 34350560, DOI: 10.1007/s11060-021-03819-2.Peer-Reviewed Original ResearchConceptsSpheno-orbital meningiomasSphenoid wing meningiomaBony involvementTRAF7 mutationsGenomic subgroupsPre-operative clinical featuresTumor invasionYale-New Haven HospitalAdditional clinical variablesSubset of tumorsPre-operative predictionWhole-exome sequencingBone involvementBone invasionClinical featuresClinical variablesGrade IIMolecular subtypesRecurrence patternsClinical implicationsHyperostosisExome sequencingMeningiomasTumorsGenomic drivers
2020
Genetic characterization of an aggressive optic nerve pilocytic glioma
Hong CS, Fliney G, Fisayo A, An Y, Gopal PP, Omuro A, Pointdujour-Lim R, Erson-Omay EZ, Omay SB. Genetic characterization of an aggressive optic nerve pilocytic glioma. Brain Tumor Pathology 2020, 38: 59-63. PMID: 33098465, PMCID: PMC7585354, DOI: 10.1007/s10014-020-00383-x.Peer-Reviewed Original ResearchConceptsOptic nerve gliomaLeft optic nerve sheathLeft-sided visual lossSporadic adult casesOptic nerve sheathNeurofibromatosis type 1 syndromeType 1 syndromeWhole-exome sequencingEmpiric managementVisual lossFocal radiotherapyOptic nervePediatric populationNerve sheathOpen biopsyAdult casesBiopsy specimenBenign histopathologyClinical prognosticationPilocytic astrocytomaComplex tumorsActionable targetsVisual pathwayAdult populationTumor progressionGenetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor
S ., Kundishora AJ, Elsamadicy AA, Koo AB, Beckta JM, McGuone D, Erson-Omay EZ, Omay SB. Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor. Surgical Neurology International 2020, 11: 303. PMID: 33093980, PMCID: PMC7568119, DOI: 10.25259/sni_265_2020.Peer-Reviewed Original ResearchNeuroendocrine tumorsSellar metastasisVisual deficitsPrimary pituitary tumorsLung carcinoid tumorEndoscopic endonasal resectionActionable therapeutic targetsWhole-exome sequencingPituitary metastasisFinal pathologyPituitary involvementCarcinoid tumorsEndocrine dysfunctionHistopathological correlatesEndocrine abnormalitiesSystemic tumorsPrimary tumorSuprasellar lesionsMetastatic tumorsSellar tumorsEndonasal resectionPituitary tumorsGastrointestinal tractTherapeutic targetPituitary gland26. GENETIC CHARACTERIZATION OF SELLAR METASTASIS FROM PRIMARY BRONCHIAL CARCINOID TUMOR OF NEUROENDOCRINE PATHOLOGY
Hong C, McGuone D, Erson-Omay E, Omay S. 26. GENETIC CHARACTERIZATION OF SELLAR METASTASIS FROM PRIMARY BRONCHIAL CARCINOID TUMOR OF NEUROENDOCRINE PATHOLOGY. Neuro-Oncology Advances 2020, 2: ii4-ii5. PMCID: PMC7401391, DOI: 10.1093/noajnl/vdaa073.016.Peer-Reviewed Original ResearchSellar metastasisCarcinoid tumorsSystemic tumorsNeuroendocrine tumorsPrimary tumorNeuroendocrine originSellar regionPituitary glandMultiple primary lung cancersSubsequent brain MRIPrimary lung cancerBronchial carcinoid tumorsLung carcinoid tumorYear old femaleKi-67 indexGenetic alterationsEndoscopic endonasal approachWhole-exome sequencingPituitary adenoma progressionFinal pathologyPituitary involvementPositive immunohistochemistryEndocrine dysfunctionHistopathological correlatesRare lesions
2017
Longitudinal analysis of treatment-induced genomic alterations in gliomas
Erson-Omay EZ, Henegariu O, Omay SB, Harmancı AS, Youngblood MW, Mishra-Gorur K, Li J, Özduman K, Carrión-Grant G, Clark VE, Çağlar C, Bakırcıoğlu M, Pamir MN, Tabar V, Vortmeyer AO, Bilguvar K, Yasuno K, DeAngelis LM, Baehring JM, Moliterno J, Günel M. Longitudinal analysis of treatment-induced genomic alterations in gliomas. Genome Medicine 2017, 9: 12. PMID: 28153049, PMCID: PMC5290635, DOI: 10.1186/s13073-017-0401-9.Peer-Reviewed Original ResearchMeSH KeywordsAntineoplastic AgentsChromosome AberrationsCombined Modality TherapyDisease ProgressionDNA Mismatch RepairDNA Mutational AnalysisDNA, NeoplasmExomeFemaleGeneral SurgeryGenome, HumanGenomicsGlioblastomaHumansImmunotherapyLongitudinal StudiesMiddle AgedMutationNeoplasm Recurrence, LocalPrecision MedicineRadiotherapyTreatment OutcomeConceptsWhole-exome sequencingMismatch repair deficiencyImmune checkpoint inhibitionMalignant brain tumorsMolecular changesLongitudinal analysisMedian survivalCheckpoint inhibitionSubsequent recurrenceMaximal resectionStandard treatmentBackgroundGlioblastoma multiformeBrain tumorsTumor-normal pairsFavorable responsePrimary GBMIndividual tumorsConclusionsOur studyPrecision therapyPersonalized treatmentGenomic profilingRepair deficiencyGenomic alterationsGenomic profilesTherapy