Cohort study of prognostic impact of cohesin mutations in patients with acute myeloid leukemia and myelodysplastic syndromes

The prognostic impact of cohesin mutations in patients with acute myeloid leukemia (AML) and myelodysplastic sydromes (MDS) is controversial. A cohort study at the University of Massachusetts (Worcester) compared 36 AML/MDS patients with cohesin mutations (STAG2, n=28; SMC1A, n=7; SMC3, n=3; co-expression of cohesin mutations, n=2) and 47 AML/MDS patients with wild-type (WT) cohesin genes. Patients who had STAG2 mutations had better median overall survival than patients who had only SMC1A or SMC3 mutations 26 versus 10 months; p=0,043). SRSF2 mutation was the most frequent co-occuring mutation (n=12; 33%) and was associated with worse median OS than WT SRSF2 (13 versus 43 monthsl p=0.016). Seven patients (19%) with cohesin mutations underwent transplantation; their median OS was 70 months. Compared with the WT cohesin group, patients who had cohesin mutations were more likely to have adverse-risk AML (82% versus 53%). The authors conclude that the study provides insight into the prognostic impact of cohesin mutations and co-occuring mutations in patients with myeloid malignancies.