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
2015
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