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| Content Provider | MDPI |
|---|---|
| Author | Gill, Harinder Leung, Anskar Kwong, Yok-Lam |
| Abstract | Myelodysplastic syndrome (MDS) is a group of heterogeneous clonal hematopoietic stem cell disorders characterized by cytopenia, ineffective hematopoiesis, and progression to secondary acute myeloid leukemia in high-risk cases. Conventional prognostication relies on clinicopathological parameters supplemented by cytogenetic information. However, recent studies have shown that genetic aberrations also have critical impacts on treatment outcome. Moreover, these genetic alterations may themselves be a target for treatment. The mutation landscape in MDS is shaped by gene aberrations involved in DNA methylation (TET2, DNMT3A, IDH1/2), histone modification (ASXL1, EZH2), the RNA splicing machinery (SF3B1, SRSF2, ZRSR2, U2AF1/2), transcription (RUNX1, TP53, BCOR, PHF6, NCOR, CEBPA, GATA2), tyrosine kinase receptor signaling (JAK2, MPL, FLT3, GNAS, KIT), RAS pathways (KRAS, NRAS, CBL, NF1, PTPN11), DNA repair (ATM, BRCC3, DLRE1C, FANCL), and cohesion complexes (STAG2, CTCF, SMC1A, RAD21). A detailed understanding of the pathogenetic mechanisms leading to transformation is critical for designing single-agent or combinatorial approaches in target therapy of MDS. |
| File Size | 461824 |
| File Format | |
| e-ISSN | 14220067 |
| DOI | 10.3390/ijms17040440 |
| Journal | International Journal of Molecular Sciences |
| Issue Number | 4 |
| Volume Number | 17 |
| Language | English |
| Publisher Date | 2016-03-24 |
| Access Restriction | Open |
| Subject Keyword | myelodysplastic syndrome gene mutations prognostication target therapy |
| Content Type | Text |
| Resource Type | Article |
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