Pure erythroid leukemia (PEL), also known as acute erythroid leukemia (AEL), is recognized as a distinct morphologic entity by both the 2016 and 2022 World Health Organization (WHO) classification system. By contrast, the 2022 International Consensus Classification (ICC) includes PEL under a broader category of “acute myeloid leukemia with mutated TP53”. We identified 41 Mayo Clinic cases of PEL (mean age 66 years, range 27–86; 71% males) and provide a comprehensive account of bone marrow morphology, immunophenotype, cytogenetic and mutation profiles. PEL was primary in 14 cases, therapy-related in 14, secondary in 12, and undetermined in one. All cases expressed biallelic TP53 alterations, including TP53 deletion/single TP53 mutation (68%), two TP53 mutations (29%) or two TP53 deletions (3%); additional mutations were infrequent. Karyotype was complex in all cases and monosomal in 90%. Treatment details were available in 29 patients: hypomethylating agent (HMA) alone (n = 5), HMA + venetoclax (n = 12), intensive chemotherapy (n = 4), supportive care/other (n = 8); no responses or allogeneic stem cell transplants were documented, and all patients died at a median 1.8 months (range 0.2–9.3). The current study highlights a consistent and reproducible set of morphologic and genetic characteristics that identify PEL as a distinct AML variant whose dismal prognosis requires urgent attention.
纯红细胞白血病（PEL），亦称急性红细胞白血病（AEL），在2016年和2022年世界卫生组织（WHO）分类系统中均被确认为独立的形态学实体。相比之下，2022年国际共识分类（ICC）将其归入“伴TP53基因突变的急性髓系白血病”这一更广泛的类别。我们分析了梅奥诊所41例PEL病例（平均年龄66岁，范围27-86岁；71%为男性），并系统阐述了其骨髓形态学、免疫表型、细胞遗传学及突变特征。其中原发14例，治疗相关14例，继发12例，1例来源未明。所有病例均存在双等位基因TP53改变，包括TP53缺失/单TP53突变（68%）、双TP53突变（29%）或双TP53缺失（3%）；其他突变较为罕见。全部病例均表现为复杂核型，其中90%为单体核型。29例患者获得治疗详细信息：单用低甲基化药物（HMA）（5例）、HMA联合维奈托克（12例）、强化疗（4例）、支持治疗/其他方案（8例）；未见治疗缓解或异基因干细胞移植病例，所有患者均死亡，中位生存期1.8个月（范围0.2-9.3）。本研究揭示了一组具有一致性、可复现的形态学与遗传学特征，证实PEL是一种独特的急性髓系白血病亚型，其不良预后亟待关注。
肿瘤(癌症)患者之家