The Molecular Anatomy of Myelodysplastic Syndromes: An Update

Aims: Myelodysplastic syndromes (MDS) are a group of clonal haematopoietic disorders arising from blood stem cells. Their main characteristics are a wide range of cytopenias and ineffective haematopoiesis. The purpose of this review was to summarise the current knowledge on the molecular biology of MDS the impact of gene mutations on the outcome of the disease.

Materials and Methods: A thorough search of PubMed was conducted and a review of the current literature.

Results: The introduction of novel techniques in molecular biology (real-time PCR, next generation sequencing) has led to the identification of a series of mutations associated with prognosis of MDS patients and response to therapy and the development of novel prognostic models classifying MDS patients into risk groups. Those mutations include chromosomal aberrations and point mutations involving genes associated with mRNA splicing, methylation, signal transduction, regulation of transcription and cell cycle and other cellular pathways.

Conclusion: Further studies will be needed in order to define the precise role of those mutations in prognosis and therapy of MDS.