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Showing 1–8 of 8 results
Advanced filters: Author: Eve Lapouble Clear advanced filters

  • Liquid biopsies enable minimally invasive applications for diagnosis and treatment monitoring. Here the authors analyse fragmentation patterns of circulating tumour DNA on multiple levels and develop a bioinformatic tool, LIQUORICE, to accurately detect and classify paediatric cancers with low mutational burden.

    • Peter Peneder
    • Adrian M. Stütz
    • Eleni M. Tomazou
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-16

  • Ewing sarcoma (EWS) is a rare pediatric bone cancer typically involving the EWSR1-FLI1 fusion. Here the authors perform a genome-wide association study and report three new EWS risk loci that reside near GGAA repeat sequences, and identify candidate genes (RREB1 and KIZ) from eQTL analysis.

    • Mitchell J. Machiela
    • Thomas G. P. Grünewald
    • Olivier Delattre
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-8

  • Noradrenergic and mesenchymal cell states have been proposed in neuroblastoma, but their contributions to the tumour are not clearly understood. Here, the authors used in vitro and in vivo models, as well as single-cell RNA-seq, to characterise noradrenergic and mesenchymal cells and their phenotypic plasticity in neuroblastoma.

    • Cécile Thirant
    • Agathe Peltier
    • Isabelle Janoueix-Lerosey
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-18

  • John Maris, Jan Molenaar, Gudrun Schleiermacher and colleagues performed whole-genome sequencing of 23 paired diagnostic and relapsed neuroblastomas, showing enrichment for mutations in the RAS-MAPK signaling pathway. These mutations render neuroblastoma cell lines susceptible to MEK inhibition.

    • Thomas F Eleveld
    • Derek A Oldridge
    • John M Maris
    Research
    Nature Genetics
    Volume: 47, P: 864-871

  • DNA methylation sequencing and bioinformatic analyses uncover an epigenetic disease spectrum in Ewing sarcoma. These characteristic epigenome patterns correlate with state of differentiation and disease aggressiveness, and pave the way for the development of biomarkers.

    • Nathan C Sheffield
    • Gaelle Pierron
    • Eleni M Tomazou
    Research
    Nature Medicine
    Volume: 23, P: 386-395

  • Olivier Delattre and colleagues show that a Ewing sarcoma susceptibility variant at 10q21.3 influences EGR2 expression by altering the activity of an enhancer bound by EWSR1-FLI1. They further show that EGR2 knockdown inhibits growth of Ewing sarcoma cells in vitro and induces complete regression of xenografts in vivo, establishing a critical role for EGR2 in Ewing sarcomagenesis.

    • Thomas G P Grünewald
    • Virginie Bernard
    • Olivier Delattre
    Research
    Nature Genetics
    Volume: 47, P: 1073-1078

  • Isabelle Janoueix-Lerosey, Valentina Boeva and colleagues analyze the super-enhancer landscape of 25 neuroblastoma cell lines to define core regulatory circuits controlling gene expression programs. They find and functionally characterize two types of cell identity that contribute to the tumor heterogeneity of neuroblastoma.

    • Valentina Boeva
    • Caroline Louis-Brennetot
    • Isabelle Janoueix-Lerosey
    Research
    Nature Genetics
    Volume: 49, P: 1408-1413