Blood Res.  2021 Apr;56(S1):S51-S64. 10.5045/br.2021.2021010.

Myelodysplastic syndromes and overlap syndromes

• Chang YH

• KMID: 2515299
• DOI: http://doi.org/10.5045/br.2021.2021010

Abstract

Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematological neoplasms characterized by ineffective hematopoiesis, morphologic dysplasia, and cytopenia. MDS overlap syndromes include various disorders, such as myelodysplastic/myeloproliferative neoplasms and hypoplastic MDS with aplastic anemia characteristics. MDS overlap syndromes share the characteristics of other diseases, which make differential diagnoses challenging. Advances in genomic studies have led to the discovery of frequent mutations in MDS and overlap syndromes; however, most of the mutations are not specific for the diagnosis of these diseases. The molecular characteristics of the overlap syndromes usually do not show a just “in-between” form but rather heterogeneous features. Established diagnostic criteria for these diseases based on clinical, morphologic, and laboratory features are still useful when combined with genomic data. It is expected that further studies for MDS and overlap syndromes will place emphasis on the roles of mutations as therapeutic targets and prognostic indicators.

Keyword

Myelodysplastic syndromes; Overlap syndromes; Myelodysplastic/myeloproliferative neoplasms; Hypoplastic MDS; Genomic; Mutation