Key Points ELANE mutations in the first codon and Kozak sequence yield amino-terminally truncated NE lacking pre and pro sequences. The study implies that sometimes NE coding sequence changes are incidental and noncoding ELANE variants are pathogenic.

One of the most common hematologic malignancies in adults, myelodysplastic syndrome (MDS) is a heterogenous group of clonal disorders characterized by peripheral cytopenia(s) and normal or hypercellular bone marrow with dysplasia in ≥1 blood cell lineages. MDS frequently evolves to secondary acute myeloid leukemia with poor prognosis. Although uncommon among pediatric hematologic malignancies, both de novo and secondary MDS occur in children and may be the first presentation of an inherited bone marrow failure syndrome. Unlike its adult counterpart, pediatric MDS is more frequently associated with hypocellular bone marrow and monosomy 7. Refractory cytopenia is more typical than refractory anemia, as seen in the elderly. Its recognition and management can be quite challenging and requires the expertise of an experienced hematopathologist. In this review, we describe the epidemiology, genetics, and clinical spectrum of pediatric MDS along with its diagnostic and therapeutic challenges. We also compare and contrast pediatric and adult MDS.