Frontiers in oncology · 2024
Impaired neutrophil-mediated cell death drives Ewing's Sarcoma in the background of Down syndrome.
СтатьяНазвание и аннотация: Перевод в очереди
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Peirone Serena, Tirtei Elisa, Campello Anna, Parlato Caterina, Guarrera Simonetta, Mareschi Katia, Marini Elena, Asaftei Sebastian Dorin, Bertero Luca, Papotti Mauro, Priante Francesca, Perrone Sarah, Cereda Matteo, Fagioli Franca
Аннотация
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.
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.