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Review
. 2020 Nov 20;9(11):2512.
doi: 10.3390/cells9112512.

The Genomics of Myelodysplastic Syndromes: Origins of Disease Evolution, Biological Pathways, and Prognostic Implications

Hassan Awada  1 , Bicky Thapa  2 , Valeria Visconte  1
Affiliations
Review

The Genomics of Myelodysplastic Syndromes: Origins of Disease Evolution, Biological Pathways, and Prognostic Implications

Hassan Awada et al. Cells. .

Abstract

The molecular pathogenesis of myelodysplastic syndrome (MDS) is complex due to the high rate of genomic heterogeneity. Significant advances have been made in the last decade which elucidated the landscape of molecular alterations (cytogenetic abnormalities, gene mutations) in MDS. Seminal experimental studies have clarified the role of diverse gene mutations in the context of disease phenotypes, but the lack of faithful murine models and/or cell lines spontaneously carrying certain gene mutations have hampered the knowledge on how and why specific pathways are associated with MDS pathogenesis. Here, we summarize the genomics of MDS and provide an overview on the deregulation of pathways and the latest molecular targeted therapeutics.

Keywords: MDS; deregulated expression; mutations.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
The altered genetic pathways in MDS. The figures illustrate the main genetic pathways involved in the pathogenesis of MDS including: Signal transduction (KIT, FLT3, RTK), Cohesion complex (RAD21, SMC1/3, STAG1/2), DNA transcription (TP53, RUNX1), RNA-splicing (SF3B1, SRSF2, U2AF1, ZRSR2), DNA methylation (DNMT3A, TET2), Histone modification (ASXL1, EZH2).
See this image and copyright information in PMC

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