#IDIBELLseminars: Pediatric Myelodysplastic Syndromes: predisposition, biological background and clinical decision making

Riccardo Masetti

University of Bologna



Sala Pau Viladiu


Pediatric myelodysplastic syndromes (MDS) comprise an heterogenous group of clonal stem cell disorders accounting for less than 5% of childhood malignancies. Approximately 30% to 45% of pediatric MDS cases are associated with an underlying genetic predisposition syndrome. The germline etiology associated with a high percentage of MDS diagnoses represent a novel challenging scenario with the availability of clinical genetic testing and our understanding of MDS pathobiology. In recent years, the discovery of a new germline predisposition syndromes like GATA2 deficiency and SAMD9/SAMD9L related conditions has rapidly revolutionized the field with broad implications for both patients, families, and physicians in charge of clinical decision making. Moreover, novel implications are also raising regarding somatic aberrations. The recent discovery of somatic aberration in UBTF gene, in advanced pediatric MDS changed completely our perspective on these diseases and will definitely impact the current clinical practice.

Hosted by Alessandra Giorgetti – Hematopoietic Stem Cell Biology and Leukemogenesis group

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