Department of Pediatrics, Peking University People's Hospital, Peking University, Beijing, China.
Department of Pediatrics, Peking University People's Hospital, Peking University, Beijing, China.
Clin Lymphoma Myeloma Leuk. 2021 Apr;21(4):e301-e308. doi: 10.1016/j.clml.2020.11.001. Epub 2020 Nov 6.
Acute megakaryoblastic leukemia (AMKL) is a biologically heterogeneous subtype of acute myeloid leukemia that originates from megakaryocytes. Patients with AMKL with non-Down syndrome (DS) had a poorer prognosis. However, clear prognostic indicators and treatment recommendations for this subgroup remain controversial.
Herein, we performed a retrospective study on 40 patients (age ≤ 18 years) with non-Down syndrome AMKL at our institution. We assessed the effect of different prognostic factors, such as their cytogenetic abnormalities, early treatment response, and the role of hematopoietic stem cell transplantation (HSCT) as post-remission treatment on the outcomes.
The complete remission (CR) rate of the patients was 57.9% and 81.1%, respectively, at the end of induction therapy 1 and 2. The overall survival (OS) and event-free survival rates at 2 years were 41% ± 13% and 41% ± 10%, respectively. An analysis of the cytogenetic features showed that patients with +21 or hyperdiploid (> 50 chromosomes) had significantly better OS than those in other cytogenetic subgroups (P = .048 and P = .040, respectively). Besides cytogenetics, an excellent early treatment response (CR and minimal residual disease < 1% after induction therapy 1) also provided a significant survival benefit in univariate analysis in our study. However, multivariate analysis indicated that allogeneic HSCT was the only independent prognostic marker (relative risk, 11.192; 95% confidence interval, 2.045-61.241; P = .005 for OS and relative risk, 5.400; 95% confidence interval, 1.635-17.832; P = .006 for event-free survival, respectively).
AMKL in patients with non-Down syndrome has a poor outcome. With poor OS but CR rates comparable with other acute myeloid leukemia subtypes, allogenic HSCT may be a better option for post-remission therapy than conventional chemotherapy, especially for those having a poor response to induction therapy.
急性巨核细胞白血病（AMKL）是一种起源于巨核细胞的生物学异质性急性髓系白血病亚型。非唐氏综合征（DS）的 AMKL 患者预后较差。然而，对于这一亚组，明确的预后指标和治疗建议仍存在争议。
在此，我们对我院 40 例（年龄≤18 岁）非 DS AMKL 患者进行了回顾性研究。我们评估了不同预后因素的影响，例如细胞遗传学异常、早期治疗反应以及造血干细胞移植（HSCT）作为缓解后治疗在结局中的作用。
患者在诱导治疗 1 结束时的完全缓解（CR）率分别为 57.9%和 81.1%，在诱导治疗 2 结束时的 CR 率分别为 72.5%和 92.9%。2 年时的总生存率（OS）和无事件生存率分别为 41%±13%和 41%±10%。细胞遗传学特征分析显示，+21 或超二倍体（>50 条染色体）患者的 OS 明显优于其他细胞遗传学亚组（P=0.048 和 P=0.040）。除细胞遗传学外，在本研究中，早期治疗反应良好（诱导治疗 1 后 CR 和微小残留病<1%）在单因素分析中也提供了显著的生存获益。然而，多因素分析表明，异基因 HSCT 是唯一独立的预后标志物（OS 的相对风险为 11.192；95%置信区间为 2.045-61.241；P=0.005；无事件生存率的相对风险为 5.400；95%置信区间为 1.635-17.832；P=0.006）。
非 DS 患者的 AMKL 预后不良。虽然 OS 较差，但 CR 率与其他急性髓系白血病亚型相当，异基因 HSCT 可能是缓解后治疗的较好选择，优于常规化疗，尤其是对诱导治疗反应不佳的患者。
