期刊
BRITISH JOURNAL OF HAEMATOLOGY
卷 162, 期 5, 页码 587-605出版社
WILEY
DOI: 10.1111/bjh.12435
关键词
molecular pathogenesis; myelodysplastic syndromes; genomic sequencing
类别
资金
- Leukaemia Lymphoma Research Fund (UK)
- British Society for Haematology (BSH)
- Medical Research Council [MR/J006742/1] Funding Source: researchfish
The advent of novel genomic sequencing technologies has aided the identification of somatically acquired genetic abnormalities up to 80% of myelodysplastic syndrome (MDS) patients. Novel recurrent genetic mutations in pathways such as RNA splicing, DNA methylation and histone modification and cohesion complexes, underscore the molecular heterogeneity seen in this clinically varied disease. Functional studies to establish a causative link between genomic aberrations and MDS biogenesis are still in their infancy. The deluge of this molecular information, once validated on a larger cohort, will be incorporated into prognostic systems and clinical practise, and also hopefully aid in MDS therapeutics, especially in guiding targeted therapy.
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