2021
Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma
Fomchenko EI, Reeves BC, Sullivan W, Marks AM, Huttner A, Kahle KT, Erson‐Omay E. Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma. Molecular Genetics & Genomic Medicine 2021, 9: e1597. PMID: 33448156, PMCID: PMC8077124, DOI: 10.1002/mgg3.1597.Peer-Reviewed Original ResearchConceptsPilomyxoid astrocytomaPediatric patientsVariant allele frequencyHypothalamic/chiasmatic regionPathologic tissue diagnosisTreatment-related morbidityHigh recurrence ratePI3K/mTOR inhibitionYears of ageExome sequencing resultsSimilar time pointsWhole exome sequencing resultsHypothalamic dysfunctionClinical presentationSurgical managementRecurrence rateShorter survivalAggressive subtypeVision lossChiasmatic regionTissue diagnosisPatient tumorsRadiation therapyFGFR inhibitorsFGFR1 mutations
2017
SOX2 immunity and tissue resident memory in children and young adults with glioma
Vasquez JC, Huttner A, Zhang L, Marks A, Chan A, Baehring JM, Kahle KT, Dhodapkar KM. SOX2 immunity and tissue resident memory in children and young adults with glioma. Journal Of Neuro-Oncology 2017, 134: 41-53. PMID: 28620836, PMCID: PMC7906294, DOI: 10.1007/s11060-017-2515-8.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAntigen-Presenting CellsB7-H1 AntigenBrain NeoplasmsCell ProliferationChildChild, PreschoolCytokinesFemaleFlow CytometryGliomaHumansInfantMaleMyeloid CellsProgrammed Cell Death 1 ReceptorReceptors, ImmunologicRNA, Small InterferingSOXB1 Transcription FactorsT-LymphocytesTransfectionYoung AdultConceptsPediatric glial tumorsGlial tumorsT cellsExpression of SOX2Inhibitory checkpointsCD8/CD4 T cellsTissue-resident memory phenotypeTumor-infiltrating immune cellsTumor-infiltrating T cellsTumor cellsYoung adultsResident memory phenotypeTissue-resident memoryAnti-tumor immunityT cell immunityCD4 T cellsNatural killer cellsGlial tumor cellsNew antigenic targetsSingle-cell mass cytometryHigh mutation burdenStem cell antigenGlioma initiating cellsImmune checkpointsPD-1
2011
Spatio-temporal transcriptome of the human brain
Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, Sousa AM, Pletikos M, Meyer KA, Sedmak G, Guennel T, Shin Y, Johnson MB, Krsnik Ž, Mayer S, Fertuzinhos S, Umlauf S, Lisgo SN, Vortmeyer A, Weinberger DR, Mane S, Hyde TM, Huttner A, Reimers M, Kleinman JE, Šestan N. Spatio-temporal transcriptome of the human brain. Nature 2011, 478: 483-489. PMID: 22031440, PMCID: PMC3566780, DOI: 10.1038/nature10523.Peer-Reviewed Original Research
2010
Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1
Huttner AJ, Kieran MW, Yao X, Cruz L, Ladner J, Quayle K, Goumnerova LC, Irons MB, Ullrich NJ. Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. Pediatric Blood & Cancer 2010, 54: 890-896. PMID: 20310005, DOI: 10.1002/pbc.22462.Peer-Reviewed Original ResearchMeSH KeywordsBrain NeoplasmsChildChild, PreschoolDNA Modification MethylasesDNA Repair EnzymesErbB ReceptorsGene DosageGlioblastomaHumansImmunohistochemistryIn Situ HybridizationInfantKaplan-Meier EstimateMaleNeurofibromatosis 1PTEN PhosphohydrolaseRetrospective StudiesTumor Suppressor Protein p53Tumor Suppressor ProteinsConceptsNeurofibromatosis type 1Malignant tumorsType 1Median overall survivalLow-grade tumorsPeripheral nervous systemEpidermal growth factor receptor copy numberNon-NF1 patientsAdditional molecular studiesClinicopathologic studyOverall prognosisOverall survivalRetrospective reviewVascular proliferationPathologic indicatorsPatientsNervous systemTumors differsSame time periodGlioblastomaSmall sample sizeTumorsMethylguanine-DNA methyltransferase (MGMT) geneSurvivalChildren