2022
193 Arachnoid Cysts as Genetically-encoded Harbingers of Neurodevelopmental Pathology
Kundishora A, Kiziltug E, Allington G, Allocco A, Smith H, Ocken J, Moreno-De-Luca A, DiLuna M, Jin S, Kahle K. 193 Arachnoid Cysts as Genetically-encoded Harbingers of Neurodevelopmental Pathology. Neurosurgery 2022, 68: 58-58. DOI: 10.1227/neu.0000000000001880_193.Peer-Reviewed Original ResearchGene expressionGene setsScRNAseq datasetsWhole-exome sequencingSingle-cell RNA sequencing dataExome-wide significanceCell type relationshipsMultiple epigenetic regulatorsRNA sequencing dataMulti-omics approachExome sequencingChromatin remodelingEpigenetic regulationMRNA processingPhenomic analysisEpigenetic regulatorsPhenomics techniquesIntegrative genomicsSequencing dataSignificant enrichmentGenesFirst insightPhenotypic clustersNovo variantsNovel associations
2019
HGG-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