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Clonal Evolution and Somatic Genetic Rescue in Samd9 Syndrome: Presentation of Four Cases From the Spanish Registry of Pediatric Myelodysplastic Syndromes

Year: 2025

Type: article

Abstract: 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.

Source: EJC Paediatric Oncology

DOI: 10.1016/j.ejcped.2025.100379

Authors: María Muñoz Martínez, María Solsona Gadea, Nerea Vega García, Alessandro Liquori, Samuel Navarro Noguera, Cristina Diaz de Heredia Rubio, Julián Sevilla Navarro, José Cervera, Albert Català

Institutions: Hospital Sant Joan de Déu Barcelona, Instituto de Investigación Sanitaria La Fe, Hospital Universitario Son Espases, Vall d'Hebron Hospital Universitari, Hospital Infantil Universitario Niño Jesús, Hospital Universitari i Politècnic La Fe

Language: English

Topic: Acute Myeloid Leukemia Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,340

OpenAlex ID: W4415903289

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