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Br J Haematol. 2013 Sep;162(5):587-605. doi: 10.1111/bjh.12435. Epub 2013 Jul 19.

Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes.

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Department of Haematological Medicine, King's College London School of Medicine, London, UK.


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.


genomic sequencing; molecular pathogenesis; myelodysplastic syndromes

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