Molecular pathology of myelodysplastic syndromes: new developments and implications for diagnosis and treatment

The diagnosis of myelodysplastic syndromes (MDS) has been based on clinical presentations, laboratory and morphological findings, and molecular and cytogenetic profiles. With the advent of single nucleotide polymorphism (SNP) microarrays and high throughput sequencing technologies, a tremendous amount of progress has been made toward better understanding of MDS genetic and molecular changes. Recurring genetic abnormalities have been revealed in up to 80-90% of MDS patients. We herein review clinical and pathological basis of MDS, the most up-to-date advances in molecular diagnostics of MDS, including current understanding of cytogenetic and molecular markers of MDS, and their implications for MDS diagnosis and therapy selection.