Pediatric myelodysplastic syndromes (MDS) comprise less than 5% of childhood malignancies. Approximately 30% to 45% of pediatric MDS cases are associated with an underlying genetic predisposition syndrome. A subset of patients present with MDS/acute myeloid leukemia (AML) following intensive chemotherapy for an unrelated malignancy. A definitive diagnosis of MDS can often only be rendered pending a comprehensive clinical and laboratory-based evaluation, which frequently includes ancillary testing in a reference laboratory. Clinical subtypes, the current diagnostic schema, and the results of more recently performed next-generation sequencing studies in pediatric MDS are discussed here.
