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Annu Rev Pathol. 2013 Jan 24;8:21-47. doi: 10.1146/annurev-pathol-011811-132436. Epub 2012 Aug 28.

Molecular pathophysiology of myelodysplastic syndromes.

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Division of Hematology, Brigham and Women's Hospital, Boston, MA 02215, USA.


The clinicopathologic heterogeneity of myelodysplastic syndromes (MDS) is driven by diverse, somatically acquired genetic abnormalities. Recent technological advances have enabled the identification of many new mutations, which have implicated novel pathways in MDS pathogenesis, including RNA splicing and epigenetic regulation of gene expression. Molecular abnormalities, either somatic point mutations or chromosomal lesions, can be identified in the vast majority of MDS cases and underlie specific disease phenotypes. As the full array of molecular abnormalities is characterized, genetic variables are likely to complement standard morphologic evaluation in future MDS classification schemes and risk models.

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