Department of Hematology, The First Hospital of Jilin University, Changchun, 130012, China.
Department of Hematology, The First Hospital of Jilin University, Changchun, 130012, China; Stem Cell and Cancer Center, The First Hospital of Jilin University, Changchun, 130012, China.
Crit Rev Oncol Hematol. 2021 Jul;163:103379. doi: 10.1016/j.critrevonc.2021.103379. Epub 2021 Jun 1.
Acute myeloid leukemia with bi-allelic CEBPA mutation was categorized as an independent disease entity with favorable prognosis, however, recent researches have revealed huge heterogeneity within this disease group, and for some patients, relapse remained a major cause of treatment failure. Further risk stratification is essentially needed. Here by reviewing the latest literature, we summarized the characteristics of CEBPA mutation profiles and clinical features, with a special intention of dissecting the heterogeneity within the seemingly homogeneous AML with bi-allelic CEBPA mutations. Specifically, non-classical CEBPA mutation, miscellaneous companion genetic aberrations and the presence of germline CEBPA mutation are three major sources of heterogeneity. Identifying these factors can help us predict patients at a higher risk of relapse, for whom aggressive treatment may be recommended. Novel therapeutic approaches regarding manipulating potentially druggable targets as well as the debate over post remission consolidation regimens has also been discussed.
伴有双等位基因 CEBPA 突变的急性髓系白血病被归类为具有良好预后的独立疾病实体，然而，最近的研究揭示了该疾病组内存在巨大的异质性，对于某些患者，复发仍然是治疗失败的主要原因。因此，需要进一步进行风险分层。本文通过复习最新文献，总结了 CEBPA 突变谱和临床特征的特点，特别关注看似同质的伴有双等位基因 CEBPA 突变的 AML 内的异质性。具体而言，非典型 CEBPA 突变、杂合伴随遗传异常和种系 CEBPA 突变是异质性的三个主要来源。确定这些因素有助于我们预测复发风险较高的患者，对此类患者可能需要推荐强化治疗。此外，本文还讨论了针对潜在可用药靶点的新型治疗方法以及缓解后巩固治疗方案的争议。
