MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, UK.
MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, UK.
Exp Hematol. 2021 May;97:6-13. doi: 10.1016/j.exphem.2021.02.006. Epub 2021 Feb 16.
Acute erythroid leukemia (AEL) is an acute leukemia characterized by erythroid lineage transformation. The World Health Organization (WHO) 2008 classification recognized two subtypes of AEL: bilineage erythroleukemia (erythroid/myeloid leukemia) and pure erythroid leukemia. The erythroleukemia subtype was removed in the updated 2016 WHO classification, with about half of cases reclassified as myelodysplastic syndrome (MDS) and half as acute myeloid leukemia (AML). Diagnosis and classification are currently based on morphology using standard blast cutoffs, without integration of underlying genomic and other molecular features. Key outstanding questions are therefore whether AEL can be accurately diagnosed based solely on morphology or whether genetic or other molecular criteria should be included in its classification, and whether considering AEL as an entity distinct from AML and MDS is clinically relevant. We discuss recent work on the molecular basis of AEL, including the identification of mutations causative of AEL and of transcriptional and epigenetic features that can be used to distinguish AEL from MDS and nonerythroid AML, and the prognostic value of these molecular features.
急性红细胞白血病（AEL）是一种以红系细胞转化为特征的急性白血病。世界卫生组织（WHO）2008 年的分类承认 AEL 有两种亚型：双系红白血病（红系/髓系白血病）和纯红细胞白血病。在更新的 2016 年 WHO 分类中，红白血病亚型被删除，约一半的病例重新分类为骨髓增生异常综合征（MDS），一半为急性髓系白血病（AML）。目前的诊断和分类是基于形态学，使用标准的 blast 截断值，而不整合潜在的基因组和其他分子特征。因此，关键的未解决问题是，是否可以仅基于形态学准确诊断 AEL，或者是否应将遗传或其他分子标准纳入其分类，以及是否将 AEL 视为与 AML 和 MDS 不同的实体在临床上是否有意义。我们讨论了 AEL 的分子基础的最新研究工作，包括确定导致 AEL 的突变以及可用于区分 AEL 与 MDS 和非红细胞性 AML 的转录和表观遗传特征，以及这些分子特征的预后价值。
