Persistent mutations in remission can predict relapse in patients with acute myeloid leukemia.

Persistence of or mutations in remission bone marrow specimens of patients with acute myeloid leukemia has been observed, but the clinical impact of these mutations is not well known. In this study, we evaluated 80 acute myeloid leukemia patients with known R132 or R140/R172 mutations and assessed their bone marrow at the time of remission to determine the potential impact of persistent mutations. Approximately 40% of acute myeloid leukemia patients given standard treatment in this cohort had persistent mutations in Patients with an mutation had an increased risk of relapse after 1 year of follow-up compared to patients without a detectable mutation (59% 24%; <0.01). However, a persistent mutation was not associated with a shorter time to relapse. High mutation burden (mutant allelic frequency ≥10%) did not correlate with relapse rate (77% 86% for patients with a low burden, i.e., mutant allelic frequency <10%; =0.66). Persistent mutations were also observed in , and during remission, but mutations remained significant in predicting relapse by multivariate analysis. Flow cytometry was comparable and complementary to next-generation sequencing-based assay for predicting relapse. Monitoring for persistent mutations in patients with acute myeloid leukemia in remission can provide information that could be used to justify early interventions, with the hope of facilitating longer remissions and better outcomes in these patients.