| Autor: |
Serena Peirone, Elisa Tirtei, Anna Campello, Caterina Parlato, Simonetta Guarrera, Katia Mareschi, Elena Marini, Sebastian Dorin Asaftei, Luca Bertero, Mauro Papotti, Matteo Cereda, Franca Fagioli |
| Rok vydání: |
2023 |
| Popis: |
Ewing's Sarcoma (EWS) has been reported in seven children with Down Syndrome (DS). To date, a detailed assessment of this solid tumor in DS patients is still missing. Here, we characterized a chemo-resistant mediastinal EWS in a 2-year-old DS child, the youngest ever reported case, by exploiting sequencing approaches. The tumor 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. In this context, the tumor underwent nearly genome-wide haploidization resulting in a massive overexpression of pro-inflammatory cytokines. Recruitment of defective neutrophils fostered the fast evolution of this EWS. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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