| Autor: |
Serena Peirone, Elisa Tirtei, Anna Campello, Caterina Parlato, Simonetta Guarrera, Katia Mareschi, Elena Marini, Sebastian Dorin Asaftei, Luca Bertero, Mauro Papotti, Francesca Priante, Sarah Perrone, Matteo Cereda, Franca Fagioli |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Frontiers in Oncology, Vol 14 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2234-943X |
| DOI: |
10.3389/fonc.2024.1429833 |
| Popis: |
IntroductionEwing 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.MethodsHere, we characterise a chemo-resistant mediastinal EWS in a 2-year-old DS child, the youngest ever reported case, by exploiting sequencing approaches.ResultsThe 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.DiscussionIn 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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