Cited by 1,212Glioma Diagnosis and TreatmentChromatin Remodeling and CancerCancer Genomics and Diagnostics

Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma

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Mackay, Alan, Burford, Anna, Carvalho, Diana, Izquierdo, Elisa, Fazal-Salom, Janat, Taylor, Kathryn R., Bjerke, Lynn, Clarke, Matthew +55 more·2017·Cancer Cell

Abstract

Paediatric high-grade glioma and diffuse intrinsic pontine glioma are rare, incurable childhood brain tumours with differing biology to adult cancers.We collated data from 157 unpublished cases and 20 publically available datasets in an integrated analysis comprising 1067 unique patients across all anatomical compartments of the CNS.Distinct clinicopathological and molecular subgroups are defined by specific histone mutations, with novel co-segregating mutations identified including loss of FBXW7 in H3.3G34R/V, TOP3A rearrangements in H3.3K27M, and BCOR mutations in H3.1K27M.Histone wild-type subgroups are refined by the presence of key oncogenic events or methylation profiles more closely resembling lower-grade tumours.Genomic aberrations decrease with age, highlighting the infant population as biologically and clinically distinct.Across the whole cohort, we identify novel pathway dysregulation in small subsets of tumours, further defining the molecular diversity of the disease, opening up novel avenues for biological study and providing a basis for functionally-defined future treatment stratification.

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Crossref · 10.1016/j.ccell.2017.08.017

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  • Several studies have shown that the loss of H3K27 trimethylation leads to major gene expression changes that are accompanied by a concomitant gain of acetylation at H3K27.

    “Several studies have shown that the loss of H3K27 trimethylation leads to major gene expression changes that are accompanied by a concomitant gain of acetylation at H3K27 107,111,114 .”

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Authors
Mackay, A., Burford, A., Carvalho, D., Izquierdo, E., Fazal-Salom, J., Taylor, K. R., Bjerke, L., Clarke, M., Vinci, M., Nandhabalan, M., Temelso, S., Popov, S., Molinari, V., Raman, P., Waanders, A. J., Han, H. J., Gupta, S., Marshall, L., Zacharoulis, S., Vaidya, S., Mandeville, H. C., Bridges, L. R., Martin, A. J., Al-Sarraj, S., Chandler, C., Ng, H.-K., Li, X., Mu, K., Trabelsi, S., Brahim, D. H.-B., Kisljakov, A. N., Konovalov, D. M., Moore, A. S., Carcaboso, A. M., Sunol, M., de Torres, C., Cruz, O., Mora, J., Shats, L. I., Stavale, J. N., Bidinotto, L. T., Reis, R. M., Entz-Werle, N., Farrell, M., Cryan, J., Crimmins, D., Caird, J., Pears, J., Monje, M., Debily, M.-A., Castel, D., Grill, J., Hawkins, C., Nikbakht, H., Jabado, N., Baker, S. J., Pfister, S. M., Jones, D. T. W., Fouladi, M., von Bueren, A. O., Baudis, M., Resnick, A., & Jones, C.
Affiliations
  • Institute of Cancer Research (GB)
  • Children's Hospital of Philadelphia (US)
  • SIB Swiss Institute of Bioinformatics (CH)
  • Royal Marsden Hospital (GB)
  • St George's Hospital (GB)
  • King's College Hospital (GB)
  • Chinese University of Hong Kong (HK)
  • Shandong University (CN)
  • Hôpital Farhat Hached (TN)
  • Translational Research Institute (AU)
  • Institut de Recerca Sant Joan de Déu (ES)
  • Hospital de Câncer de Barretos (BR)
  • Beaumont Hospital (IE)
  • Temple Street Children's University Hospital (IE)
  • Children's Health Ireland at Crumlin (IE)
  • Stanford Medicine (US)
  • Institut Gustave Roussy (FR)
  • Hospital for Sick Children (CA)
  • McGill University (CA)
  • St. Jude Children's Research Hospital (US)
  • German Cancer Research Center (DE)
  • Cincinnati Children's Hospital Medical Center (US)
Corresponding author
Jones, Chris
Venue
Cancer Cell
Publisher
Elsevier BV
Published
2017-10
Volume
32
Issue
4
Pages
520-537.e5
ISSN
1535-6108 (ISSN-L)
OpenAlex
W2751187578
Cited by
1,212
References
56
Citations by year
2026: 127 · 2025: 136 · 2024: 189 · 2023: 156 · 2022: 145 · 2021: 162 · 2020: 150 · 2019: 94 · 2018: 46 · 2017: 5 · 2014: 1
FWCI
11.32
Type
journal article
Language
en
Open access
Locations
  • Cancer Cell (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • RepositóriUM (Universidade do Minho) (publishedVersion, other-oa)
  • Archive ouverte UNIGE (University of Geneva) (publishedVersion, other-oa)
  • Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, cc-by)
  • St George's Online Research Archive (St George's University of London) (acceptedVersion)
  • HAL (submittedVersion, cc-by)
  • Queen Mary Research Online (Queen Mary University of London) (submittedVersion, cc-by)
  • LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
  • Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion, cc-by-nc-nd)
  • Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
  • Zurich Open Repository and Archive (University of Zurich) (submittedVersion, cc-by)
  • Zurich Open Repository and Archive (University of Zurich)
  • Greater South Information System
Funders
  • Cancer Research UK (C13468/A13982, C13468/A23536)
  • CRIS Cancer Foundation
  • Abbie's Army and the DIPG Collaborative
  • Cure Starts Now Foundation
  • Christopher's Smile
  • McKenna Claire Foundation
  • Lyla Nsouli Foundation
  • National Institutes of Health (R01NS085336, R01NS091620)
  • The Dragon Master Foundation
  • The Kortney Rose Foundation
  • The Musella Foundation For Brain Tumor Research & Information
  • Gray Matters Foundation
  • Pediatric Brain Tumor Foundation
  • Brain Tumour Charity
  • Great Ormond Street Children's Charity
  • Children with Cancer UK
  • NHS
Topics
  • Health Sciences › Medicine › Genetics › Glioma Diagnosis and Treatment
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Keywords
pediatric high-grade glioma, diffuse intrinsic pontine glioma, H3.3K27M, BCOR mutation, genetic abnormalities, tumor age, molecular subtypes, dysregulated pathways, treatment stratification
MeSH terms
F-Box-WD Repeat-Containing Protein 7, Adolescent, Child, Child, Preschool, DNA Topoisomerases, Type I, Female, Glioma, Histones, Humans, Infant, Infant, Newborn, Male, Mutation, Proto-Oncogene Proteins, Repressor Proteins, Gene Dosage, Cell Cycle Proteins, Brain Stem Neoplasms, Ubiquitin-Protein Ligases, F-Box Proteins, Young Adult, Exome

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