Article
The molecular pathogenesis of the myelodysplastic syndromes.
European journal of haematology - 1 Jul 2015
Pellagatti Andrea, Boultwood Jacqueline
Abstract excerpt
Recent studies have greatly illuminated the genomic landscape of the myelodysplastic syndromes (MDS), and the pace of discovery is accelerating. The most common mutations found in MDS occur in genes involved in RNA splicing (including SF3B1, SRSF2, U2AF1, and ZRSR2) and epigenetic modification (including TET2, ASXL1, and DNMT3A). The identification of spliceosome mutations in approximately half of all patients...
Topics
- Chromosome Deletion
- Chromosomes, Human, Pair 5
- Cri-du-Chat Syndrome
- DNA (Cytosine-5-)-Methyltransferases
- Epigenesis, Genetic
- Haploinsufficiency
- Humans
- Mutation
- Myelodysplastic Syndromes
- Prognosis
- RNA Splicing