Introduction: Myelodysplastic Syndromes (MDS) are a heterogeneous group of myeloid neoplasms arising in a multipotent hematopoietic stem cell. In about 50% of cases, chromosomal aberrations are detected, which can serve as clonal markers as well as important prognostic factors. In recent years, many somatic mutations have been recognized to be involved in the initiation and clonal evolution of MDS. They provide prognostic information, not only regarding the natural course of disease but also regarding the outcome of allogeneic stem cell transplantation (aSCT) and can be used to monitor the depth of treatment response and enable early detection of relapse. Areas covered: The authors describe current methods for mutation detection in MDS and highlight their prognostic significance. In addition, the authors discuss whether molecular findings should influence the approach to aSCT and how they can be used for minimal residual disease (MRD) detection and guidance for preemptive treatment of relapse. Expert opinion: Molecular genetics give insight into the pathophysiology of MDS, provide prognostic information on the natural course of disease and help to predict the success of several therapeutic approaches including aSCT. MRD monitoring based on next-generation sequencing will soon become the standard of care to guide treatment before and after aSCT.
Keywords: Minimal Residual Disease (MRD); Myelodysplastic syndromes; allogeneic blood stem cell transplantation; somatic mutations; treatment of relapse.