[Genetic alterations in myelodysplastic neoplasms of childhood]

Recent technological advances have enabled the identification of numerous genetic abnormalities and have facilitated the accurate classification of childhood myelodysplastic neoplasia (MDS). Childhood MDS is characterized by clonal defects in hematopoietic stem and progenitor cells, leading to ineffective hematopoiesis and an increased risk of leukemic transformation-similar to adult MDS. However, childhood MDS is biologically distinct from its adult counterpart, differing in the spectrum of driver genes involved in transformation and showing a higher incidence of germline mutations commonly seen in inherited bone marrow failure syndromes (IBMFS) and hereditary myeloid malignancies. Childhood MDS often presents with hypocellular bone marrow, overlapping significantly with conditions such as aplastic anemia and IBMFS, which can make clinical differentiation challenging. Comprehensive genomic profiling using multigene panel testing offers the potential for more precise diagnosis and tailored treatment of childhood MDS and related myeloid malignancies.