Molecular Techniques and Gene Mutations in Myelodysplastic Syndromes

Sequencing technology, particularly next-generation sequencing, has highlighted the importance of gene mutations in myelodysplastic syndromes (MDSs). Mutations affecting DNA methylation, chromatin modification, RNA splicing, cohesin complex, and other pathways are present in most MDS cases and often have prognostic and clinical implications. Updated international diagnostic guidelines as well as the new International Prognostic Scoring System-Molecular incorporate molecular data into the diagnosis and prognostication of MDS. With whole-genome sequencing predicted to become the future standard of genetic evaluation, it is likely that MDS diagnosis and management will become increasingly personalized based on an individual's clinical and genomic profile.