An exploratory study of 90 adults with myelodysplastic syndromes (MDS) evaluated the association of mutations detected after allogeneic hematopoietic cell transplantation (HCT) with the risk of disease progression and survival.
The authors used enhanced exome sequencing to detect mutations pre-transplant, and error-corrected sequencing to genotype mutations from bone marrow samples 30 days post-HCT.
Results showed that 32 of the 90 adults (37%) had at least one mutation with a maximum variant allele frequency of at least 0.5%. A multivariate analysis revealed those patients who had the presence of at least one higher maximum variant allele frequency mutation had a higher rate of disease progression than those patients who did not (hazard ratio (HR), 4.48; p<0.001). Progression-free survival was lower for patients with higher variant allele frequency mutations (HR for progression or death, 2.39; p=0.002).
The authors concluded those patients with MDS who had persistent disease-associated mutations had a higher risk of disease progression than those who did not have these mutations detected.
Duncavage EJ, et al. N Engl J Med