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 progression
2019
Tumor mutational load predicts survival after immunotherapy across multiple cancer types
Samstein RM, Lee CH, Shoushtari AN, Hellmann MD, Shen R, Janjigian YY, Barron DA, Zehir A, Jordan EJ, Omuro A, Kaley TJ, Kendall SM, Motzer RJ, Hakimi AA, Voss MH, Russo P, Rosenberg J, Iyer G, Bochner BH, Bajorin DF, Al-Ahmadie HA, Chaft JE, Rudin CM, Riely GJ, Baxi S, Ho AL, Wong RJ, Pfister DG, Wolchok JD, Barker CA, Gutin PH, Brennan CW, Tabar V, Mellinghoff IK, DeAngelis LM, Ariyan CE, Lee N, Tap WD, Gounder MM, D’Angelo S, Saltz L, Stadler ZK, Scher HI, Baselga J, Razavi P, Klebanoff CA, Yaeger R, Segal NH, Ku GY, DeMatteo RP, Ladanyi M, Rizvi NA, Berger MF, Riaz N, Solit DB, Chan TA, Morris LGT. Tumor mutational load predicts survival after immunotherapy across multiple cancer types. Nature Genetics 2019, 51: 202-206. PMID: 30643254, PMCID: PMC6365097, DOI: 10.1038/s41588-018-0312-8.Peer-Reviewed Original ResearchConceptsTumor mutational burdenHigh tumor mutational burdenImproved survivalCancer typesImmune checkpoint inhibitor treatmentAdvanced cancer patientsBetter overall survivalCheckpoint inhibitor treatmentMultiple cancer typesClinical responseOverall survivalCancer patientsPredictive biomarkersCancer histologyMetastatic cancerMutational burdenPatientsInhibitor treatmentNext-generation sequencingSurvivalICIMutational loadUniversal definitionAssociationImmunotherapy
2017
Ibrutinib Unmasks Critical Role of Bruton Tyrosine Kinase in Primary CNS Lymphoma
Grommes C, Pastore A, Palaskas N, Tang SS, Campos C, Schartz D, Codega P, Nichol D, Clark O, Hsieh WY, Rohle D, Rosenblum M, Viale A, Tabar VS, Brennan CW, Gavrilovic IT, Kaley TJ, Nolan CP, Omuro A, Pentsova E, Thomas AA, Tsyvkin E, Noy A, Palomba ML, Hamlin P, Sauter CS, Moskowitz CH, Wolfe J, Dogan A, Won M, Glass J, Peak S, Lallana EC, Hatzoglou V, Reiner AS, Gutin PH, Huse JT, Panageas KS, Graeber TG, Schultz N, DeAngelis LM, Mellinghoff IK. Ibrutinib Unmasks Critical Role of Bruton Tyrosine Kinase in Primary CNS Lymphoma. Cancer Discovery 2017, 7: 1018-1029. PMID: 28619981, PMCID: PMC5581705, DOI: 10.1158/2159-8290.cd-17-0613.Peer-Reviewed Original ResearchMeSH KeywordsAdenineAdultAgammaglobulinaemia Tyrosine KinaseAgedAged, 80 and overAntineoplastic AgentsCARD Signaling Adaptor ProteinsCentral Nervous System NeoplasmsDrug Resistance, NeoplasmFemaleGuanylate CyclaseHumansLymphoma, B-CellMaleMaximum Tolerated DoseMiddle AgedMutationPiperidinesProtein Kinase InhibitorsProtein-Tyrosine KinasesPyrazolesPyrimidinesTreatment OutcomeYoung AdultConceptsPrimary central nervous system lymphomaBruton's tyrosine kinaseB-cell lymphomaRefractory B-cell lymphomaB cell antigen receptorCentral nervous system lymphomaRole of BTKDiffuse large B-cell lymphomaLarge B-cell lymphomaPhase I clinical trialClass BTK inhibitorIncomplete tumor responseNervous system lymphomaToll-like receptorsPI3K/mTORIbrutinib responseCNS lymphomaClinical responseComplete responseReceptor-associated proteinSystem lymphomaActivation markersTumor responseClinical trialsPCNSL cellsMutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients
Zehir A, Benayed R, Shah RH, Syed A, Middha S, Kim HR, Srinivasan P, Gao J, Chakravarty D, Devlin SM, Hellmann MD, Barron DA, Schram AM, Hameed M, Dogan S, Ross DS, Hechtman JF, DeLair DF, Yao J, Mandelker DL, Cheng DT, Chandramohan R, Mohanty AS, Ptashkin RN, Jayakumaran G, Prasad M, Syed MH, Rema AB, Liu ZY, Nafa K, Borsu L, Sadowska J, Casanova J, Bacares R, Kiecka IJ, Razumova A, Son JB, Stewart L, Baldi T, Mullaney KA, Al-Ahmadie H, Vakiani E, Abeshouse AA, Penson AV, Jonsson P, Camacho N, Chang MT, Won HH, Gross BE, Kundra R, Heins ZJ, Chen HW, Phillips S, Zhang H, Wang J, Ochoa A, Wills J, Eubank M, Thomas SB, Gardos SM, Reales DN, Galle J, Durany R, Cambria R, Abida W, Cercek A, Feldman DR, Gounder MM, Hakimi AA, Harding JJ, Iyer G, Janjigian YY, Jordan EJ, Kelly CM, Lowery MA, Morris LGT, Omuro AM, Raj N, Razavi P, Shoushtari AN, Shukla N, Soumerai TE, Varghese AM, Yaeger R, Coleman J, Bochner B, Riely GJ, Saltz LB, Scher HI, Sabbatini PJ, Robson ME, Klimstra DS, Taylor BS, Baselga J, Schultz N, Hyman DM, Arcila ME, Solit DB, Ladanyi M, Berger MF. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nature Medicine 2017, 23: 703-713. PMID: 28481359, PMCID: PMC5461196, DOI: 10.1038/nm.4333.Peer-Reviewed Original ResearchConceptsMemorial Sloan-Kettering Cancer CenterCancer-related genesProspective clinical sequencingAdvanced solid cancersSequencing platformsStructural variantsGenomic landscapeGenomic mutationsDetailed clinical annotationMutational landscapeSequencing resultsNumber alterationsCancer CenterPatient enrollmentClinical trialsMSK-IMPACTMetastatic cancerSolid cancersNew insightsNormal tissuesClinical sequencingCancer therapyPatientsCancerClinical annotation
2016
Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid
Pentsova EI, Shah RH, Tang J, Boire A, You D, Briggs S, Omuro A, Lin X, Fleisher M, Grommes C, Panageas KS, Meng F, Selcuklu SD, Ogilvie S, Distefano N, Shagabayeva L, Rosenblum M, DeAngelis LM, Viale A, Mellinghoff IK, Berger MF. Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid. Journal Of Clinical Oncology 2016, 34: 2404-2415. PMID: 27161972, PMCID: PMC4981784, DOI: 10.1200/jco.2016.66.6487.Peer-Reviewed Original ResearchConceptsCentral nervous systemPrimary brain tumorsCerebrospinal fluidCell-free DNACNS involvementBrain tumorsNervous systemCommon malignant primary brain tumorMalignant primary brain tumorRoutine lumbar punctureRelevant genomic alterationsCNS metastasesCNS cancersLumbar punctureCancer-associated genesTumor disseminationHarbored mutationsPatientsTumor evolutionSolid tumorsTumor progressionTumor tissueCancerLiquid biopsyTumors
2014
Transcriptional diversity of long-term glioblastoma survivors
Gerber NK, Goenka A, Turcan S, Reyngold M, Makarov V, Kannan K, Beal K, Omuro A, Yamada Y, Gutin P, Brennan CW, Huse JT, Chan TA. Transcriptional diversity of long-term glioblastoma survivors. Neuro-Oncology 2014, 16: 1186-1195. PMID: 24662514, PMCID: PMC4136896, DOI: 10.1093/neuonc/nou043.Peer-Reviewed Original ResearchConceptsMemorial Sloan-Kettering Cancer CenterLong-term survivorsLong-term glioblastoma survivorsIDH mutationsIDH2 mutational statusMedian overall survivalStrong prognostic valueBiology of glioblastomaMGMT promoter methylationMedian survivalOverall survivalBetter prognosisPoor prognosisPrognostic valueCancer CenterAggressive typeIndependent cohortMesenchymal subtypeREMBRANDT cohortMutational statusIDH2 mutationsGBM biologyPatientsMGMT methylationMGMT promoter
2005
EGFR tyrosine kinase domain mutations in human gliomas
Marie Y, Carpentier A, Omuro A, Sanson M, Thillet J, Hoang-Xuan K, Delattre J. EGFR tyrosine kinase domain mutations in human gliomas. Neurology 2005, 64: 1444-1445. PMID: 15851741, DOI: 10.1212/01.wnl.0000158654.07080.b0.Peer-Reviewed Original ResearchConceptsLung cancerEGFR tyrosine kinase domain mutationsEpidermal growth factor receptor tyrosine kinase inhibitorsGrowth factor receptor tyrosine kinase inhibitorsTyrosine kinase domain mutationsReceptor tyrosine kinase inhibitorsKinase domain mutationsTyrosine kinase inhibitorsLow-grade gliomasEGFR tyrosine kinase domainResistance of glioblastomaAnaplastic oligodendrogliomaHuman gliomasGliomasTyrosine kinase domainExon 19Kinase inhibitorsDomain mutationsGefitinibCancerGlioblastomaSuch mutationsMutationsPatientsEGFR