CLONAL EVOLUTION AND SOMATIC GENETIC RESCUE IN SAMD9 SYNDROME: PRESENTATION OF FOUR CASES FROM THE SPANISH REGISTRY OF PEDIATRIC MYELODYSPLASTIC SYNDROMES
harbored variants associated with predisposition to malignancies, particularly leukemias.Pediatric patients dominated the cancer-predisposing subgroup, often undergoing molecular evaluation early.These findings underscore the importance of timely genetic testing to guide surveillance and support family counseling, ultimately improving outcomes.
Authors
- Nerea Vega García
- Albert Català (ORCID: https://orcid.org/0000-0003-0133-1752)
- Alessandro Liquori (ORCID: https://orcid.org/0000-0002-4842-5986)
- José Cervera (ORCID: https://orcid.org/0000-0001-8252-1106)
- Cristina Díaz de Heredia (ORCID: https://orcid.org/0000-0001-8086-296X)
- Julián Sevilla (ORCID: https://orcid.org/0000-0002-6852-1860)
- Samuel Navarro Noguera (ORCID: https://orcid.org/0000-0003-1266-3373)
- Manuel Martínez (ORCID: https://orcid.org/0000-0002-7826-5872)
- María Solsona Gadea
Institutions
- Hebron University (PS)
- Hospital Sant Joan de Déu Barcelona (ES)
- Hospital Universitari i Politècnic La Fe (ES)
- Hospital Infantil Universitario Niño Jesús (ES)
- Hospital Universitario Son Espases (ES)
- Spanish Ovarian Cancer Research Group (ES)
- Instituto de Investigación Sanitaria La Fe (ES)
Publication Details
- Journal
- EJC Paediatric Oncology
- Published
- 2025-11-05
- DOI
- https://doi.org/10.1016/j.ejcped.2025.100379
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00