2020
Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma
Hong CS, Vasquez JC, Kundishora AJ, Elsamadicy AA, Beckta JM, Sule A, Marks AM, Leelatian N, Huttner A, Bindra RS, DiLuna ML, Kahle KT, Erson-Omay EZ. Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma. Npj Genomic Medicine 2020, 5: 23. PMID: 32528726, PMCID: PMC7264170, DOI: 10.1038/s41525-020-0130-7.Peer-Reviewed Original ResearchPediatric patientsStandard chemoradiationSTAG2 mutationsTumor clonesPediatric glioblastomaGross total resectionMultiple surgical resectionsTime of recurrenceHigh-grade gliomasDNA damage repair defectsWhole-exome sequencingVariety of treatmentsSurgical resectionNovel deleterious mutationsStandard therapyTotal resectionVaccine therapyClinical evidencePreclinical dataTreatment optionsMultimodal therapyPreclinical studiesClinical settingTherapyAdult counterparts
2017
PDTM-25. GENETIC SUSCEPTIBILITY AND EVOLUTION OF PEDIATRIC IDH-MUTANT INFILTRATING ASTROCYTOMAS
Bornhorst M, Goecks J, Boue D, Broniscer A, Hwang E, Koschmann C, Marks A, Mody R, Mueller S, Orr B, Packer R, Solomon D, Turner J, Vortmeyer A, Nazarian J, Ho C. PDTM-25. GENETIC SUSCEPTIBILITY AND EVOLUTION OF PEDIATRIC IDH-MUTANT INFILTRATING ASTROCYTOMAS. Neuro-Oncology 2017, 19: vi195-vi195. PMCID: PMC5692642, DOI: 10.1093/neuonc/nox168.789.Peer-Reviewed Original ResearchTP53 mutationsPediatric gliomasGermline mutationsIDH mutationsLow-grade tumorsHigh-grade tumorsLow mutation burdenYears of ageHigh-grade astrocytomasGermline TP53 mutationsMismatch repair genesIDH-mutant astrocytomasYounger patientsMulti-institution studyEarly lesionsMutation burdenMutant allele frequencyPatientsSporadic casesAstrocytomasTumorsSporadic tumorsAdult counterpartsGenetic susceptibilityLow cellularity