ArticleFrontiers in oncology2024
Impaired neutrophil-mediated cell death drives Ewing's Sarcoma in the background of Down syndrome.
Article in Frontiers in oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Mapping Genomic Heterogeneity in Pediatric and Adolescent-Young Adult Sarcomas: Insights from the Italian SAR-GEN2016 and SAR-GEN_ITA Prospective Multicenter Trials.Cancer research communications · 2026Article
- Article
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Authors and funding
14 authors.
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Abstract
Introduction: Ewing Sarcoma (EWS) has been reported in seven children with Down syndrome (DS). To date, a detailed assessment of this solid tumour in DS patients is yet to be made. Methods: Here, we characterise a chemo-resistant mediastinal EWS in a 2-year-old DS child, the youngest ever reported case, by exploiting sequencing approaches. Results: The tumour showed a neuroectodermal development driven by the EWSR1-FLI1 fusion. The inherited myeloperoxidase deficiency of the patient caused failure of neutrophil-mediated cell death and promoted genomic instability. Discussion: In this context, the tumour underwent genome-wide near haploidisation resulting in a massive overexpression of pro-inflammatory cytokines. Recruitment of defective neutrophils fostered rapid evolution of this EWS.
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