| Autor: |
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 |
| Předmět: |
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| Zdroj: |
Frontiers in Oncology; 2024, p01-13, 13p |
| Abstrakt: |
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-resistantmediastinal 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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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