Droplet digital PCR for genetic mutations monitoring predicts relapse risk in pediatric acute myeloid leukemia

Multiparameter flow cytometry (MFC)-based minimal residual disease has been a poor predictor of prognosis in children with acute myeloid leukemia (AML). This study aimed to evaluate the incremental value of serial monitoring by droplet digital PCR (ddPCR) in forecasting the outcome of AML. Twenty-four children with AML were enrolled and the relapse-free survival (RFS) rate was estimated using the Kaplan–Meier method. Survival estimates were compared using the log-rank test. Survival analysis showed that the RFS rate in the ddPCR ≥ 0.1% group was significantly lower than that in the < 0.1% group (35.7% ± 19.8% vs. 83.6% ± 10.8%, P = 0.003). Moreover, serial monitoring by ddPCR showed that some mutations remained positive in some patients even though other co-mutations were eliminated, and those patients were more prone to relapse, with a significantly poorer RFS compared to patients negative for mutation (22.0% ± 19.2% vs 83.3% ± 11.3%, P = 0.001). Consequently, ddPCR may assist in prognostic forecasting for pediatric AML.