Childhood Myelodysplastic Syndrome

Clin Lab Med. 2023 Dec;43(4):639-655. doi: 10.1016/j.cll.2023.06.005. Epub 2023 Aug 7.


Myelodysplastic syndrome (MDS) in children is rare, accounting for < 5% of all childhood hematologic malignancies. With the advent of next-generation sequencing, the etiology of many childhood MDS (cMDS) cases has been elucidated with the finding of predisposing germline mutations in one-quarter to one-third of cases; somatic mutations have also been identified, indicating that cMDS is different than adult MDS. Herein, cMDS classification schema, clinical presentation, laboratory values, bone marrow histology, differential diagnostic considerations, and the recent molecular findings of cMDS are described.

Keywords: Childhood myelodysplastic syndrome (MDS); Germline predisposition; Inherited bone marrow failure syndrome; MDS; Myelodysplastic syndrome; Pediatric MDS; Refractory cytopenia of childhood.

Publication types

  • Review

MeSH terms

  • Adult
  • Bone Marrow / pathology
  • Child
  • Disease Susceptibility / pathology
  • Hematologic Neoplasms* / pathology
  • Humans
  • Myelodysplastic Syndromes* / diagnosis
  • Myelodysplastic Syndromes* / genetics