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