2021
Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas
Kazarian E, Marks A, Cui J, Darbinyan A, Tong E, Mueller S, Cha S, Aboian MS. Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas. Scientific Reports 2021, 11: 14377. PMID: 34257334, PMCID: PMC8277861, DOI: 10.1038/s41598-021-92943-0.Peer-Reviewed Original ResearchConceptsHigh-grade gliomasDiffuse midline gliomaPediatric diffuse midline gliomasMidline gliomaGene panel testingDriver mutationsPanel testingTumor board reviewK27M mutationPediatric patientsNormal gene expression patternsH3 K27M-mutationImaging featuresPreoperative MRIEndogenous gene expressionCerebral hemispheresGliomas correlatesNormal brainGene expression patternsMutation testingPatientsTopographic distributionGliomasM mutationIDH1 mutation
2019
Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report.
Fomchenko EI, Erson-Omay EZ, Kundishora AJ, Hong CS, Daniel AA, Allocco A, Duy PQ, Darbinyan A, Marks AM, DiLuna ML, Kahle KT, Huttner A. Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report. Journal Of Neurosurgery Pediatrics 2019, 25: 121-130. PMID: 31653819, DOI: 10.3171/2019.8.peds18664.Peer-Reviewed Original ResearchPineal parenchymal tumorsPediatric midline gliomasWhole-exome sequencingH3K27M mutationParenchymal tumorsIntermediate differentiationMidline gliomaM mutationClonality analysisTumors harbored mutationsHigh-grade lesionsCurative surgical optionVaried morphological appearancesChromosome 17 lossSomatic mutationsSpinal metastasesClinical presentationDismal prognosisSpine metastasesSurgical managementSurgical optionsMidline tumorsCase reportHarbored mutationsNF1 lossHGG-01. ACQUISITION OF A HYPERMUTATOR PHENOTYPE UNDERLYING DISTANT SPINAL INTRAMEDULLARY SPREAD IN HISTONE-MUTATED DIFFUSE MIDLINE GLIOMA
Hong C, Kundishora A, Fomchenko E, Huttner A, Erson-Omay Z, Marks A, Diluna M, Kahle K. HGG-01. ACQUISITION OF A HYPERMUTATOR PHENOTYPE UNDERLYING DISTANT SPINAL INTRAMEDULLARY SPREAD IN HISTONE-MUTATED DIFFUSE MIDLINE GLIOMA. Neuro-Oncology 2019, 21: ii86-ii86. PMCID: PMC6477387, DOI: 10.1093/neuonc/noz036.095.Peer-Reviewed Original ResearchIntramedullary spinal metastasesDiffuse midline gliomaMidline gliomaWhole-exome sequencingSpinal metastasesKey oncogenic driver mutationsSomatic mutationsExome sequencingLower extremity weaknessDistant metastatic spreadHigh-grade astrocytic tumorsGenetic alterationsOncogenic driver mutationsSpinal metastatic lesionsProton beam radiationThirteen-year-old maleSpinal intramedullaryExtremity weaknessDistant spreadMetastatic lesionsLumbar tumorsPineal lesionsPoor prognosisTumor spreadPineal tumors
2018
PDTM-35. GENETIC ALTERATIONS DRIVING SPINAL INTRAMEDULLARY METASTASES OF A HISTONE-MUTATED DIFFUSE MIDLINE PINEAL GLIOMA
Hong C, Kundishora A, Omay E, Huttner A, Marks A, Diluna M, Kahle K. PDTM-35. GENETIC ALTERATIONS DRIVING SPINAL INTRAMEDULLARY METASTASES OF A HISTONE-MUTATED DIFFUSE MIDLINE PINEAL GLIOMA. Neuro-Oncology 2018, 20: vi211-vi211. PMCID: PMC6217703, DOI: 10.1093/neuonc/noy148.875.Peer-Reviewed Original ResearchDiffuse midline gliomaMidline gliomaH3K27M mutationGenetic alterationsM mutationIntramedullary spinal metastasesSpinal intramedullary metastasisDistant metastatic spreadLower extremity weaknessMismatch repair gene mutationsKey driver mutationsRepair gene mutationsProton beam radiationWhole-exome sequencing