2022
Biallelic inactivation of PBRM1 as a molecular driver in a rare pineoblastoma case: illustrative case
Antonios JP, Yalcin K, Darbinyan A, Koo A, Hong CS, DiLuna M, Erson-Omay Z. Biallelic inactivation of PBRM1 as a molecular driver in a rare pineoblastoma case: illustrative case. Journal Of Neurosurgery Case Lessons 2022, 3: case2213. PMID: 36303510, PMCID: PMC9379698, DOI: 10.3171/case2213.Peer-Reviewed Original ResearchMolecular driversPineal parenchymal tumorsRenal cell carcinomaRare tumor typeParenchymal tumorsCell carcinomaBladder carcinomaPapillary featuresPineoblastomaTumor subtypesTumor typesConsensus groupBiallelic lossGenomic profilingCancer typesMolecular level alterationsLevel alterationsGenomic driversBiallelic inactivationCarcinomaDriver eventsTumor suppressorGenetic phenotypesPathway changesMultiomics studies
2021
Type 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