{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001002317"],"host":["EGA"],"description":["EGA study EGAS00001002317"],"dataset_title":["Genomic Landscape of Radiation Induced Meningiomas"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["WES, Complete Transcriptome, Exome Sequencing, Whole Exome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Complete Exome Sequencings, Radiations., Complete Exome, Whole, Complete Exome Sequencing, Whole Transcriptome Sequencing, Whole Exome Sequencing, Exome, Whole Transcriptome, Transcriptome Sequencing, Transcriptome Sequencings, Sequencing"],"description_synonyms":["type 2, PRKBA, Akt/PKB, Materials, RNA Sequence Determination, determination, Period Prevalence, Ass-1, Sequence Determination, neoplasia, DAKT1/PKB, RNA Sequence, Cerebrospinal Axis, Radiation Therapies, Mini Exon, FZD11, PI3K, RNF119, Tumor, AKT1, progressive encephalomyelitis with rigidity, Central Nervous, Mutations, Morsch Woltman syndrome, p110-alpha, School-Age, Techniques, Point Prevalence, chromosome 1p deletion, rfwd1, Nervous Systems, BANF, Method, AA408052, Point Prevalences, EZF, fold, p110alpha, synganglion, Analysis, DNA., placement, 1p monosomy, Fusion, treatment, E130215L21Rik, Analyses, Prevalences, Smith-Magenis chromosome region, Determination, cell process disease, tumor disease, neoplasm (disease), Radiotherapies, chromatid, procedures, suprasegmental levels of nervous system, Sequence Determinations, Protein Gx, PKB|Akt, RacPK, ASS, MCAP, Breaks, aggressive behaviour, monosomy 1p, Methodological Studies, loss of chromosome 1p, ACN, disease management, SMCR, Therapies, tumor, MCMTC, Tumors, dSmo, frontal, Therapy, Prevalence, X-ray therapy, suprasegmental structures, Radiation, dakt, Targeted Radiation, partial deletion of the short arm of chromosome type 1, Monosomies, frequency, neoplastic disease, Procedure, l(2)05338, l(3)89Bq, Central Nervous Systems, results, tumours, gyro, Determinations, neurofibromatosis central type, PKB/Akt, PKB/AKT, AKT/PKB, dAkt, dAKT, DmelCG11561, Radiotherapy, School Age, acoustic schwannomas bilateral, Gene Fusions, Genetic Materials, p-Akt, relational spatial quality, DAkt, Genetic Material, l(3)04226, Populations, DPKB, absence, systema nervosum centrale, pAkt, xAct, Encephalon, radioisotope therapy, INSDC_feature:gene, Methodological, surveillance, Methodological Study, dAKT/dPKB, PKB/dAKT, Treatments, morbidity, v-akt1, MRSR, type II, metastatic, Dakt, Patient, Chromosome, Material, rnf119, dPKB, Axi, Cistron, RFWD1, School-Age Population, DNA, Zie, other neoplasm, location, RAC-ALPHA, the brain, DRAC-PK85, Radiation Treatments, whole exome, DmelCG4006, tendency, acoustic neurinoma bilateral, Break, Procedures, Targeted Radiation Therapy, Neoplasms, Stiff-trunk syndrome, number, Gx, Gy, ATAKT1, Gene, Period Prevalences, neurofibromatosis, presence, NEOPL, Cerebrospinal, deletion 1p, Dpkb, RGD1559653, v-akt, akt-1, os frontale, Mini-Exon, Studies, neurofibromatosis type II, CG9218, SMO, Smo, SpmST, SMS, neoplasm, Technique, acoustic neurinoma, 1p deletion, del(1p), central type, SPMSY, School-Age Populations, study, Nervous System, Genetic, CNS, occurrence, F18A8.2, absent from organism, prevalence, smo, tumour, Targeted Radiotherapies, bilateral, Population, Sequencing, Gklf, Study, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS), RNA Sequence Analyses, AKT, aggression, Akt, Clients, partial monosomy of chromosome 1p, DRAC-PK, RNA Sequencing, Targeted Radiotherapy, MCM, SpS, School Age Population, partial monosomy 1p, K+ transporter 1, Methylations, NF2, Neoplastic Growth, incidence, Sequence Analyses, GKLF, DmelCG9218, Stiff person syndrome and related disorders, RNA, STIFF-PERSON syndrome, neuraxis, 6330412C24Rik, Central, Targeted Radiation Therapies, akt, RNA Sequence Determinations, Targeted, p110, SMOH, AI427066, DAkt1, SPS, bnb, DAKT1, Cistrons, Client, encephalon, Cell, CG11561, count in organism, prophase chromosome, neoplastic growth, PKB, acoustic Schwannomas, CWS6, Period, CWS5, Systems, cerebrospinal axis, chemical analysis, PKB-ALPHA, D-Akt, F18A8_2, merlin, CG4006, techniques, methylation, radiation therapy, outbreaks, Stiff-Man syndrome, Radiations, Dakt1, smoothened, pkb, DNA Break, distinct, akt1, dAkt1, exonic region, Mini-Exons, interphase chromosome, DRAC-PK66, Exon, SRS, Radiation Treatment, Neuraxis, disease of cellular proliferation, School Age Populations, endemics, Axis, caPI3K, dAkt/PKB, dakt1, CLOVE, Therapeutic, Cerebrospinal Axi, BcDNA:GH10856, Point, RNA Sequence Analysis, PKBalpha, cardinality, Fusions, Smith-Magenis syndrome chromosome region, Radiation Therapy, partial deletion of chromosome 1p, Treatment, epidemics, Smoh, XSmo, dAKT1, assay, RAC, Rac, SCH, partial monosomy of the short arm of chromosome 1, NEOPLASMS BENIGN, Neoplasia, POTASSIUM TRANSPORTER, methodology"],"additional_accession":[]},"is_claimable":false,"name":"18 Whole Exome Sequencing for Radiation Induced-Meningiomas","description":"Purpose: Majority of pediatric cancers require the irradiation of the central nervous system (CNS), and as more patients survive into adulthood from improved oncological therapy the sequelae of brain radiation are increasing in prevalence. Radiation-induced meningiomas (RIMs), one such secondary effect, demonstrate a clinically more aggressive behaviour than sporadic meningiomas (SMs). We aimed to describe the genomic mutational landscape of RIMs.Methods:  We analyzed a principal cohort of 18 RIMs, with 31 RIMs overall, from patients who received childhood radiation therapy and 30 SMs, as a comparator population. We performed a multiplatform integrative genomic analysis; including methylation, whole exome and RNA sequencing. Results: RIMs exhibited a five-fold increase in copy number alterations, commonly the loss of chromosome 1p (17/18 RIMs) and 22q (17/18 RIMs), which was significantly more than observed in sporadic meningiomas. Furthermore, RNA sequencing data revealed an NF2 gene fusion event in 35.3% of RIMs. In all 6 cases, there was a complete NF2 exon spliced into a complete exon of a reciprocal gene, suggesting that the breakpoints of genomic rearrangement are intronic. All tumours with the NF2 fusion also possessed monosomy of chromosome 22q, rendering the cells with homozygous disruption of NF2. Clinically, RIMs with the NF2 fusion exhibited ill-defined borders and a tendency to develop in anatomic frontal location. Also, targeted sequencing panel confirmed that RIMs had fewer nonsynonymous NF2 mutations (6.5% vs. 30% in SM) and absence of mutations in TRAF7, SMO, KLF4, PIK3CA and AKT1, genes traditionally involved in SMs.Conclusion: Our study demonstrates that RIMs have distinct genomic drivers of oncogenesis as compared to SMs, specifically NF2 inactivation through fusion event. Radiation therapy possibly triggers genomic structural rearrangements through error-prone repair of double-stranded DNA breaks.","dates":{"updated":"2019-10-01 16:49:41"},"accession":"EGAS00001002317","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001004358","EGAC00001001022"]}}