Patients with Core-Binding Factor (CBF) and NPM1-mutated acute myeloid leukemia (AML) can be monitored by quantitative PCR after having achieved first complete remission (CR) to detect morphologic relapse and drive preemptive therapy. How to best manage these patients is unknown. We retrospectively analyzed 303 patients with CBF and NPM1-mutated AML, aged 18–60 years, without allogeneic hematopoietic cell transplantation (HCT) in first CR, with molecular monitoring after first-line intensive therapy. Among these patients, 153 (51%) never relapsed, 95 (31%) had molecular relapse (53 received preemptive therapy and 42 progressed to morphologic relapse at salvage therapy), and 55 (18%) had upfront morphologic relapse. Patients who received preemptive therapy had higher OS than those who received salvage therapy after having progressed from molecular to morphologic relapse and those with upfront morphologic relapse (three-year OS: 78% vs. 51% vs. 51%, respectively, P = 0.01). Preemptive therapy included upfront allogeneic HCT (n = 19), intensive chemotherapy (n = 21), and non-intensive therapy (n = 13; three-year OS: 92% vs. 79% vs. 58%, respectively, P = 0.09). Although not definitive due to the non-randomized allocation of patients to different treatment strategies at relapse, our study suggests that molecular monitoring should be considered during follow-up to start preemptive therapy before overt morphologic relapse.

核心结合因子 (CBF) 和NPM1突变的急性髓系白血病 (AML) 患者在首次完全缓解 (CR) 后可以通过定量 PCR 进行监测，以检测形态学复发并推动先发性治疗。如何最好地管理这些患者尚不清楚。我们回顾性分析了 303 例 CBF 和NPM1突变 AML 患者，年龄 18-60 岁，首次 CR 时未接受同种异体造血细胞移植 (HCT)，一线强化治疗后进行分子监测。在这些患者中，153 例 (51%) 从未复发，95 例 (31%) 出现分子复发（53 例接受抢先治疗，42 例在抢救治疗时进展为形态学复发），55 例 (18%) 出现前期形态学复发。接受先发性治疗的患者比从分子复发进展到形态学复发后接受挽救治疗的患者以及前期形态学复发的患者具有更高的 OS（三年 OS：分别为 78% vs 51% vs 51%， P = 0.01） ）。抢先治疗包括前期同种异体 HCT ( n = 19)、强化化疗 ( n = 21) 和非强化治疗 ( n = 13；三年 OS：分别为 92% vs 79% vs 58%， P = 0.09）。尽管由于复发时患者非随机分配到不同的治疗策略而不确定，但我们的研究表明，在随访期间应考虑进行分子监测，以便在明显的形态学复发之前开始先发制人的治疗。