New predisposition syndromes to pediatric myelodysplastic and myeloproliferative diseases

The project aims to investigate emerging germline predisposition syndromes associated with pediatric myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). It will focus on conditions related to GATA2, SH2B3, CBL, and SHOC2 genes, integrating clinical, genetic, and immunological data from international cohorts and registries. The study will explore genotype–phenotype correlations, disease penetrance, and mechanisms of hematopoietic and immune dysregulation. In parallel, treatment outcomes, particularly hematopoietic stem cell transplantation (HSCT), will be analyzed through patient-level meta-analyses. The project also includes the development of international registries and participation in expert consensus processes to improve clinical management and define evidence-based recommendations for these rare pediatric conditions.