Comparison of therapy-related myelodysplastic syndrome with ring sideroblasts and de novo myelodysplastic syndrome with ring sideroblasts

Abstract Presence of RS is closely associated with SF3B1 mutation in de novo MDS. RS is also present in a subset of therapy-related MDS (t-MDS), but data is not available in t-MDS with RS (t-MDS-RS). Using NGS gene panel, we assessed t-MDS-RS (n = 38) and compared the result with d-MDS-RS (n = 174). Commonly mutated genes were TP53 (56.5%), TET2 (39.1%), SF3B1 (35.7%), ASXL1 (30.4%), DNMT3A (17.4%), RUNX1 (17.4%) and SRSF2 (14.3%). Compared with d-MDS-RS, TP53 mutation was more common but SF3B1 mutation was less common in t-MDS-RS (p