Therapy-related myeloid neoplasms (t-MNs) are a kind of myeloid neoplasm that develops as a result of cytotoxic chemotherapy or radiation therapy. Most t-MNs have chromosomal abnormalities linked to myelodysplastic syndrome (MDS) or KMT2A rearrangements and have poor clinical outcomes. The clinical features and mutational profiles of a small but significant minority of individuals with normal karyotype (NK) have not been adequately explored. For a study, researchers investigated the mutational profile and survival statistics between t-MNs with NK and t-MNs with aberrant karyotype in patients diagnosed with t-MN at three institutions (AK). 

A total of 204 patients with t-MN were found, with 158 having AK and 46 having NK. TET2 (P<0.0001), NPM1 (P<0.0001), ASXL1 (P=0.0003), SRSF2 (P<0.0001), RUNX1 (P=0.0336), and STAG2 (P=0.0099) mutations were substantially more common in NK t-MNs than in AK, whereas TP53 mutations were significantly less common (P<0.0001). Overall survival (OS) in AK t-MNs was considerably lower than in NK instances (P=0.0094). In comparison to their AK counterparts, NK t-MNs had a considerably superior OS, a greater prevalence of MN-associated mutations, and a lower frequency of TP53 mutations in the research. NK t-MNs deserve their own categorization due to their distinct clinical and mutational features.