{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Cancer Genomics"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001004864"],"host":["EGA"],"description":["EGA study EGAS00001004864"],"dataset_title":["Somatic whole exome sequencing of a hypermutated gliosarcoma case"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["sarcomatous glioblastoma., Glioblastoma with Sarcomatous Component, Glioma, assay, Gliosarcomas, Gliomas, Sarcomatous, Sarcomatous Gliomas, Sarcomatous Glioma, determination, chemical analysis"],"description_synonyms":["Glioma 1, Antemortem Diagnosis, Materials, Terminalis, Medullari, GLM, Metastasis, glial tumors, Mixed Glioma, Neoplasm Metastases, cd206, Progress Reports, neoplasm metastasis, Tumor, tumour of the neuroglia, Astrocytomas, Diagnosis, Repair, cancer metastasis, Mutations, Glioblastoma with Sarcomatous Component, [M]Glioma NOS (morphologic abnormality), Summary Report, tumor of the neuroglia, symptoms, frontal bone, Methazolastone, 2, 3, [M]Gliomas (morphologic abnormality), Whole Transcriptome, Transcriptome Sequencing, cytopathology, Summary Reports, spinal cord structure, treatment, Spinali, fissura cerebro-cerebellaris, me75, Prognoses, Biopsies, CCRG81045, glioma (morphologic abnormality), Progress Report, Coccygeal, Complete Exome Sequencing, Whole Transcriptome Sequencing, neuroglial tumour, Neoplasm of the Neuroglia, Conus Medullaris, M&B39831, Giant Cell Glioblastoma, D17Mit170, T1, Astrocytoma, genetic, Progress, Conus, Conus Terminali, Coccygeal Cords, Field Reports, grade IV adult Astrocytic tumor, Pathologies, disease management, tumour of neuroglia, Therapies, Gliomas (morphologic abnormality), Malignancies, CD206, glioma, neoplasm of the neuroglia, Diagnose, Mismatch, Tumors, 1-d)-1, frontal, Therapy, Spinal Cords, screening, Glioma (except Nasal glioma, TMZA-HE, Sacral Cords, Exome, familial, Medullaris, obsolete_glioma, Sarcomatous Gliomas, fissura cerebrocerebellaris, Malignant Glioma, Sarcomatous Glioma, os frontal, Giant Cell, Tl3, Tl2, M&B-39831, 5-tetrazin-4(3H)-one, Diagnoses, Temodal, Postmortem, Screenings, Benign, Medulla, Investigative Report, primary glioblastoma multiforme, Examinations and Diagnoses, Myelon, Genetic Materials, MMR, Gliomas, malignant glioma of brain, macrophage mannose receptor 1-like protein 1, Glial Cell Tumor, Sacral Cord, Postmortem Diagnosis, cerebrocerebellar fissure, CLEC13DL, Genetic Material, Diagnoses and Examination, long patch mismatch repair system, Postmortem Diagnoses, Complete Transcriptome, Glioblastoma, Factors, histopathology, mismatch repair, spongioblastoma multiforme, sarcomatous glioblastoma, Prognostic, Mismatch Repair, Field, NSC 362856, GBM, signs, mmr, Benign Neoplasms, Lumbar Cords, NSC-362856, Tumor of Neuroglia, Temodar, lower grade glioma, Treatments, Malignant Neoplasms, Phenotypes, Report, Grade IV Astrocytomas, Patient, Material, Tumor of the Neuroglia, Whole Exome Sequencing, glial tumour, not neoplastic), CCRG-81045, Cistron, Glioma, inherited genetic, Sarcomatous, DNA, glial neoplasm, malignant (morphologic abnormality), other neoplasm, Transcriptome Sequencings, Prognostic Factor, Glioma NOS, Coccygeal Cord, Complete Exome, Neoplasms, neuroglial tumor, Benign Neoplasm, Temozolomide Hexyl Ester, Gene, Prognostic Factors, Neuroglial Tumor, TMZ-Bioshuttle, Grade IV, Malignant, C-type lectin domain family 13 member D-like, Investigative, CCRG 81045, Mass, brain malignant glioma, Screening, glioblastoma, Low, Antemortem, TMZ Bioshuttle, Giant Cell Glioblastomas, cerebro-cerebellar fissure, Mixed Gliomas, Thoracic Cord, tumor cell migration, WES, Complete, Exome Sequencings, grade IV adult astrocytic tumor, MutS/MutL/MutH pathway, Genetic, Malignancy, clec13d, Glioma NOS (morphologic abnormality), DNA Mismatch, metastasis, Glial Neoplasm, Diagnoses and Examinations, Myelons, Sequencing, neuroglial neoplasm, MRC1L1, Neoplasias, Glioblastoma Multiforme, Whole Exome, glial tumor, SpC, Neoplasms of Neuroglia., Clients, Whole, Sacral, Grade IV Astrocytoma, [M]Gliomas, Investigative Reports, constitutitional genetic, Tumors of Neuroglia, tumor metastasis, Cancer, Terminali, Antemortem Diagnoses, grade IV adult astrocytic tumour, findings, cou, Malignant Neoplasm, Complete Exome Sequencings, malignant, Metastases, Cords, medulla spinalis, Factor, M&B 39831, Cistrons, Client, Examination and Diagnoses, Cord, neoplasm of neuroglia, 8-Carbamoyl-3-methylimidazo(5, Metastase, adult glioblastoma multiforme, Exome Sequencing, Lr, Conus Medullari, Mass Screenings, Research Reports, Neoplasm, rare (European definition), Mixed, [M]Glioma NOS, Radiations, glioblastoma multiforme, Glial Tumor, NOS (except Nasal glioma, Thoracic Cords, Complete Transcriptome Sequencing, Neuroglial Neoplasm, Neuroglial Neoplasms, Glial Cell, Malignant glioma, Glioblastomas, Spinalis, patient, MutL-like pathway, Conus Terminalis, Cancers, NSC362856, tumor of neuroglia, Neoplasm of Neuroglia, spinal medulla, Gliosarcomas, CLEC13D, no ICD-O subtype, Therapeutic, Reports, Glial Cell Tumors, Spinal, Bra, Malignant Gliomas, Treatment, Medulla Spinalis, biopsy, Summary, hereditary, Lumbar, Thoracic, Lumbar Cord, Medulla Spinali, Neoplasia, Field Report"],"additional_accession":[]},"is_claimable":false,"name":"Genomic analysis of a hypermutated gliosarcoma","description":"Gliosarcoma is a variant of glioblastoma with equally poor prognosis and characterized by mixed glial and mesenchymal pathology. Metastasis is not uncommon but involvement of the spinal cord is rare, and comprehensive genetic characterization of spinal gliosarcoma is lacking. We describe a patient initially diagnosed with a low-grade brain glioma via biopsy, followed by adjuvant radiation and temozolomide treatment. Nearly two years after diagnosis, she developed neurological deficits from an intradural, extramedullary tumor anterior to the spinal cord at T4, which was resected and diagnosed as gliosarcoma. Whole-exome sequencing (WES) of this tumor revealed a hypermutated phenotype, characterized by somatic mutations in key DNA mismatch repair (MMR) pathway genes, an abundance of C>T transitions within the identified somatic SNVs, and microsatellite stability, together consistent with temozolomide-mediated hypermutagenesis. This is the first report of a hypermutator phenotype in gliosarcoma, which may represent a novel genomic mechanism of progression from lower-grade glioma.","dates":{"updated":"2021-02-17 09:15:22"},"accession":"EGAS00001004864","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001006816","EGAC00001001867"]}}