The accumulation of mutations drives disease evolution from asymptomatic clonal hematopoiesis to MDS. The study and identification of MDS-related mutations can be crucial for diagnosis, risk stratification, and, ultimately, therapy decision. Most MDS cases are caused by somatic mutations in DNMT3A, TET2, SF3B1, and TP53, but they can also be caused by inherited mutations in genes like DKC1, TERC, RUNX1, ETV6, GATA2, or SBDS.