Myelodysplastic syndromes: Updates on Genomic Landscape, Molecular Subtypes, & Targeted Therapies
- 01-12-2025
- Myelodysplastic Syndrome
- Review
Published in:
- Authors
- Shirley S. Mo
- Amy E. DeZern
- Published in
- Current Hematologic Malignancy Reports | Issue 1/2025
Abstract
Purpose of Review
Advances in modern molecular and genomic testing have spurred tremendous progress in our understanding of MDS pathogenesis. Here we review common diagnostic methods, the evolving multi-omics landscape of MDS, molecular subtypes, and targeted therapies.
Recent Findings
MDS is a heterogeneous disease defined by a wide array of chromosomal abnormalities and > 40 common somatic mutations affecting RNA splicing complex, chromatin modification, DNA methylation, lineage specific transcription, DNA damage, RAS/MAPK signaling, and cohesin complex pathways. This has shaped current WHO/ICC classification criteria with the inclusion of 3 genetically defined subgroups: del(5q), SF3B1, and TP53-mutated. IDH1/2-mutated MDS is a new, emerging subgroup, for which multiple clinical trials are underway.
Summary
Several recent targeted drug approvals including luspatercept and imetelstat have greatly expanded the treatment arsenal for lower-risk MDS. Standard of care therapy options for high-risk MDS, in particular TP53-mutated, remain limited beyond HMAs and transplant and are an active area of investigation.
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- Title
- Myelodysplastic syndromes: Updates on Genomic Landscape, Molecular Subtypes, & Targeted Therapies
- Authors
-
Shirley S. Mo
Amy E. DeZern
- Publication date
- 01-12-2025
- Publisher
- Springer US
- Published in
-
Current Hematologic Malignancy Reports / Issue 1/2025
Print ISSN: 1558-8211
Electronic ISSN: 1558-822X - DOI
- https://doi.org/10.1007/s11899-025-00762-1
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