Premium
Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes
Author(s) -
Kulasekararaj Austin G.,
Mohamedali Azim M.,
Mufti Ghulam J.
Publication year - 2013
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.12435
Subject(s) - myelodysplastic syndromes , epigenetics , disease , rna splicing , histone , biology , computational biology , dna methylation , bioinformatics , biogenesis , genetics , medicine , gene , rna , immunology , gene expression , bone marrow
Summary 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.