Childhood Myelodysplastic Syndrome

Karen M Chisholm; Sandra D Bohling

doi:10.1016/j.cll.2023.06.005

Childhood Myelodysplastic Syndrome

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

Authors

Karen M Chisholm¹, Sandra D Bohling²

Affiliations

¹ Hematopathology, Department of Laboratories, Seattle Children's Hospital, 4800 Sand Point Way Northeast, FB.4.510, Seattle, WA 98105, USA; Department of Laboratory Medicine and Pathology, University of Washington Medical Center, 4800 Sand Point Way Northeast, FB.4.510, Seattle, WA 98105, USA. Electronic address: karen.chisholm@seattlechildrens.org.
² Hematopathology, Department of Laboratories, Seattle Children's Hospital, 4800 Sand Point Way Northeast, FB.4.510, Seattle, WA 98105, USA; Department of Laboratory Medicine and Pathology, University of Washington Medical Center, 4800 Sand Point Way Northeast, FB.4.510, Seattle, WA 98105, USA.

PMID: 37865508
DOI: 10.1016/j.cll.2023.06.005

Abstract

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