Current diagnosis and treatment for myelodysplastc syndromes

Genetic analysis of myelodysplastic syndrome (MDS) using next-generation sequencing yields medcially important information, showing gene mutations in 90% of MDS cases. The World Health Organization (WHO) classification was revised in 2016 to incorporate SF3B1 gene mutations, frequently seen in MDS with ringed sideroblasts, into the diagnostic criteria. Unlike the poor prognosis seen in cases with ASXL1, EZH2, RUNX1 and in particular, TP53 MDS-related mutations, SF3B1 gene mutations show a favorable prognosis. In low-risk patients such as these, darbepoetin treatment is an option. Moreover, the CSNK1A1 gene is known to play a role in the mechanism of action of lenalidomide. Hematopoietic stem cell transplantation is the only curable treatment for MDS, but azacitidine (AZA) is administered to high-risk patients who are not candidates for transplantation, a situation that remains unchanged. Even with allogeneic hematopoietic cell transplantation, the prognosis is poor with TET2, DNMT3A, ASXL1, RUNX1, and TP53 mutations, with survival time being significantly shorter with TP53 and PTPN11 mutations, regardless of the responsiveness to AZA. In the case of TP53 mutations, prognosis is poor for both hematopoietic stem cell transplantation and AZA treatment, although, patients with TP53 mutations have been shown to respond favorably to decitabine administration for 10 days. It is thought that the importance of genetic screening and its role in treatment decisions for MDS will further increase with time.