Featured Publications
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
2023
Sporadic pituitary adenoma with somatic double-hit loss of MEN1
Hong C, Alanya H, DiStasio M, Boulware S, Rimmer R, Omay S, Erson-Omay E. Sporadic pituitary adenoma with somatic double-hit loss of MEN1. Pituitary 2023, 26: 488-494. PMID: 37438451, DOI: 10.1007/s11102-023-01336-1.Peer-Reviewed Original Research
2017
Use of telomerase promoter mutations to mark specific molecular subsets with reciprocal clinical behavior in IDH mutant and IDH wild-type diffuse gliomas.
Akyerli CB, Yüksel Ş, Can Ö, Erson-Omay EZ, Oktay Y, Coşgun E, Ülgen E, Erdemgil Y, Sav A, von Deimling A, Günel M, Yakıcıer MC, Pamir MN, Özduman K. Use of telomerase promoter mutations to mark specific molecular subsets with reciprocal clinical behavior in IDH mutant and IDH wild-type diffuse gliomas. Journal Of Neurosurgery 2017, 128: 1102-1114. PMID: 28621624, DOI: 10.3171/2016.11.jns16973.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAgedAged, 80 and overBrain NeoplasmsCohort StudiesDNA Mutational AnalysisFemaleGenetic MarkersGliomaHumansIsocitrate DehydrogenaseKaplan-Meier EstimateKi-67 AntigenMaleMiddle AgedMutationPromoter Regions, GeneticSurvival AnalysisTelomeraseTreatment OutcomeYoung AdultConceptsMolecular subsetsIDH-wt gliomasIDH wild-type diffuse gliomasDiffuse gliomasIDH-mut gliomasClinical behaviorTERTp-mutHigh Ki-67 labeling indexKi-67 labeling indexDouble-negative subsetObjective Recent studiesClinical tumor behaviorDifferent tumor biologySpecific molecular subsetsTERT promoter mutationsEpidermal growth factor receptorTensin homolog (PTEN) mutationsTelomerase promoter mutationsCumulative followGrowth factor receptorSurgical cohortMalignant degenerationClinical parametersHistopathological diagnosisCombined status
2014
Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations
Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M. Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations. Pediatric Neurology 2014, 51: 806-813.e8. PMID: 25456301, PMCID: PMC5056964, DOI: 10.1016/j.pediatrneurol.2014.08.025.Peer-Reviewed Original ResearchConceptsBrain malformationsKnobloch syndromeCentral nervous system malformationsExpanding Clinical SpectrumStructural brain abnormalitiesStructural brain malformationsNervous system malformationsHuman cerebral cortexHuman cortical developmentWhole-exome sequencingConfirmatory Sanger sequencingCase seriesClinical presentationCerebral cortexClinical spectrumBrain abnormalitiesOcular abnormalitiesSystem malformationsClinical utilityCortical developmentImmunohistochemical analysisRare diseaseCOL18A1 mutationsBrain developmentPatients