Myelodysplastic syndromes (MDS) in children and adolescents are a rare heterogeneous group of clonal stem cell disorders. Complete or partial loss of chromosome 7 constitutes the most common cytogenetic abnormality encountered in any type of childhood MDS, is associated with more advanced disease, and usually requires a timely allogeneic stem cell transplantation. This article provides insights into the current understanding of the genotype, phenotype, and clonal evolution patterns in pediatric MDS associated with loss of chromosome 7.
Keywords: GATA2; Monosomy 7; Pediatric MDS; SAMD9; SAMD9L.
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