Sebastian Brandner
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View article: Somatic evolution following cancer treatment in normal tissue
Somatic evolution following cancer treatment in normal tissue Open
The extent to which exogenous sources, including cancer treatment, contribute to somatic evolution in normal tissue remains unclear. Here we used high-depth duplex sequencing 1 (more than 30,000× coverage) to analyse 168 cancer-free sample…
View article: Loss of IDH1 and IDH2 mutations during the evolution of metastatic chondrosarcoma
Loss of IDH1 and IDH2 mutations during the evolution of metastatic chondrosarcoma Open
Driver mutations in IDH1 and IDH2 are initiating events in the evolution of chondrosarcoma and several other cancer types. Here, we present evidence that mutant IDH1 is recurrently lost in metastatic central chondrosarcoma. This may reflec…
View article: Loss of global DNA hypermethylation is prognostic in IDH-mutant and 1p/19q-codeleted oligodendrogliomas
Loss of global DNA hypermethylation is prognostic in IDH-mutant and 1p/19q-codeleted oligodendrogliomas Open
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View article: PATH-75. Hetairos enables AI-based histopathological classification of CNS tumours
PATH-75. Hetairos enables AI-based histopathological classification of CNS tumours Open
Central nervous system (CNS) tumours encompass a diverse group of neoplasms with complex histological and molecular profiles. DNA methylation profiling has revolutionised their classification, enabling diagnosis at granular resolution. How…
View article: PATH-101. Neuropath-AI, a histopathology-based deep learning classifier for CNS tumors, achieves and improves human neuropathologist-level performance
PATH-101. Neuropath-AI, a histopathology-based deep learning classifier for CNS tumors, achieves and improves human neuropathologist-level performance Open
Molecular testing has become critical components in the diagnostic classification of the central nervous system (CNS) tumors. However, these methods require substantial resources, limiting accessibility for many patients. Recent advances i…
View article: OS12.4.A AI-BASED HISTOPATHOLOGICAL CLASSIFICATION OF CENTRAL NERVOUS SYSTEM TUMOURS
OS12.4.A AI-BASED HISTOPATHOLOGICAL CLASSIFICATION OF CENTRAL NERVOUS SYSTEM TUMOURS Open
BACKGROUND DNA methylation profiling is central to CNS tumour diagnostics, providing molecular classification beyond conventional histopathology. However, its use is constrained by extended turnaround time, high costs and the need for spec…
View article: CLINICAL AND SURVIVAL OUTCOMES IN ADULT H3 G34 GLIOMA PATIENTS: A RETROSPECTIVE ANALYSIS ACROSS 13 UK CARE CENTRES
CLINICAL AND SURVIVAL OUTCOMES IN ADULT H3 G34 GLIOMA PATIENTS: A RETROSPECTIVE ANALYSIS ACROSS 13 UK CARE CENTRES Open
AIMS H3 G34R-mutated gliomas, also known as diffuse hemispheric gliomas, are rare, highly aggressive tumours predominantly affecting children and young adults. In paediatric and adolescent populations, the median time to progression is app…
View article: METHYLATION CLASS AND THE INTEGRATED RISK SCORE IN A COHORT OF 170 MENINGIOMA PATIENTS WITH SUBGROUP ANALYSIS OF RECURRENT, RADIATION-INDUCED AND MULTIPLE MENINGIOMAS
METHYLATION CLASS AND THE INTEGRATED RISK SCORE IN A COHORT OF 170 MENINGIOMA PATIENTS WITH SUBGROUP ANALYSIS OF RECURRENT, RADIATION-INDUCED AND MULTIPLE MENINGIOMAS Open
AIMS To understand the distribution of methylation class (MC) and integrated risk scores (IntRS) within a cohort of meningioma patients, with subgroup analysis of recurrent, radiation-induced and multiple meningiomas. METHODS Analysis of a…
View article: DEEP MULTI-MODAL REPRESENTATIONAL PHENOTYPING OF GLIOMA
DEEP MULTI-MODAL REPRESENTATIONAL PHENOTYPING OF GLIOMA Open
AIMS Complex heterogeneity is a major obstacle to clinical and scientific progress in neuro-oncology, resolvable only with highly expressive models powered by large-scale data and high-performance compute. We sought to de- velop a comprehen…
View article: Data-driven modelling of tau pathology reveals distinct progressive supranuclear palsy subtypes
Data-driven modelling of tau pathology reveals distinct progressive supranuclear palsy subtypes Open
Progressive supranuclear palsy (PSP) is a heterogeneous neurodegenerative disease characterised by the accumulation of misfolded 4-repeat tau within neurones and glial cells. There is limited longitudinal data on pathologically confirmed P…
View article: Supplementary Figure S5 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations
Supplementary Figure S5 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations Open
Supplementary figure 5 Features of the GBM_CBM and GBM_MES_ATYP subgroups
View article: Supplementary Figure S6 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations
Supplementary Figure S6 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations Open
Supplementary figure 6 Multivariate analyses within the TYA cohort.
View article: Supplementary Table S2 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations
Supplementary Table S2 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations Open
Supplementary Table 2 Copy number analysis. Gene amplifications derived from methylation array analysis for the TYA cohort with associated frequencies.
View article: Supplementary Table S4 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations
Supplementary Table S4 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations Open
Supplementary Table 4 Sequencing data analysis. Mutations in Cancer Census Genes identified in TYA HGG cases from available whole exome sequencing data (n=107).
View article: Supplementary Figure S4 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations
Supplementary Figure S4 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations Open
Supplementary figure 4 Mutations in TYA gliomas
View article: Supplementary Figure S2 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations
Supplementary Figure S2 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations Open
Supplementary figure 2 DNA Methylation profiling of the TYA HGG cohort.
View article: Supplementary Table S3 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations
Supplementary Table S3 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations Open
Supplementary Table 3 Copy number analysis. Gene deletions derived from methylation array analysis for the TYA cohort with associated frequencies.
View article: Supplementary Figure S1 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations
Supplementary Figure S1 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations Open
Supplementary figure 1 A, Bar plot showing the frequency of age distribution across the TYA cohort, and the gender proportions. Blue representing male, pink representing female. B, Pie chart representing the original diagnoses of the TYA c…
View article: Supplementary Figure S3 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations
Supplementary Figure S3 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations Open
Supplementary figure 3 DNA copy number profiling of the TYA cohort.
View article: Supplementary Table S1 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations
Supplementary Table S1 from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations Open
Supplementary Table 1 Sample cohort. Clinicopathological and molecular profiling data of the TYA HGG cohort (n=207).
View article: Data from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations
Data from The Spectrum of IDH- and H3-Wildtype High-Grade Glioma Subgroups Occurring across Teenage and Young Adult Patient Populations Open
Purpose:High-grade gliomas (HGG) occur in any central nervous system location and at any age. HGGs in teenagers/young adults (TYA) are understudied. This project aimed to characterize these tumors to support accurate stratification of pati…
View article: Anatomic Staging of H3 G34-Mutant Diffuse Hemispheric Glioma
Anatomic Staging of H3 G34-Mutant Diffuse Hemispheric Glioma Open
AS is reproducible and prognostically relevant for H3 G34-mutant gliomas, providing insights into tumor spread. It may inform treatment decisions, but larger studies are needed to confirm its clinical utility.
View article: Inherited prion disease caused by a novel frameshift mutation of <i>PRNP</i> resulting in protein truncation at codon 157
Inherited prion disease caused by a novel frameshift mutation of <i>PRNP</i> resulting in protein truncation at codon 157 Open
Background PrP systemic amyloidosis is increasingly recognized as a novel inherited prion disease (IPD) syndrome caused by PRNP C-terminal truncating mutations. As well as systemic manifestations they cause gradually progressive cognitive …
View article: Advancing sarcoma diagnostics with expanded DNA methylation-based classification
Advancing sarcoma diagnostics with expanded DNA methylation-based classification Open
Purpose Sarcomas pose a severe diagnostic challenge. A wide variety of these distinct entities need to be distinguished from each other and from less aggressive types of mesenchymal tumors, to ensure correct clinical management. A machine …
View article: Outcome-associated factors in a molecularly defined cohort of central neurocytoma
Outcome-associated factors in a molecularly defined cohort of central neurocytoma Open
Central neurocytomas (CN) are intraventricular brain tumors predominantly occurring in young adults. Although prognosis is usually favorable, tumor recurrence is common, particularly following subtotal resection (STR). Currently, the risk …
View article: Automated Diffusion Analysis for Noninvasive Prediction of <i>Isocitrate Dehydrogenase</i> Genotype in WHO Grade 2–3 Gliomas
Automated Diffusion Analysis for Noninvasive Prediction of <i>Isocitrate Dehydrogenase</i> Genotype in WHO Grade 2–3 Gliomas Open
The T2-weighted trained nnUNet algorithm achieved ADC readouts for IDH genotyping with a performance statistically equivalent to human observers. This approach could support rapid ADC-based identification of glioblastoma at an early diseas…
View article: Testing Meningiomas With Methylation Arrays: Insights and Recommendations From a Large Single‐Centre Study
Testing Meningiomas With Methylation Arrays: Insights and Recommendations From a Large Single‐Centre Study Open
Aims Meningiomas are common primary CNS tumours, and their morphological diagnosis is usually straightforward. Their histological grading according to CNS WHO criteria alone provides limited information on recurrence risk. Risk stratificat…
View article: A novel model of glioblastoma recurrence to identify therapeutic vulnerabilities
A novel model of glioblastoma recurrence to identify therapeutic vulnerabilities Open
Glioblastoma remains incurable and recurs in all patients. Here we design and characterize a novel induced-recurrence model in which mice xenografted with primary patient-derived glioma initiating/stem cells (GIC) are treated with a therap…