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)，也称为急性红细胞白血病 (AEL)，被 2016 年和 2022 年世界卫生组织 (WHO) 分类系统认定为独特的形态学实体。相比之下，2022 年国际共识分类 (ICC) 将 PEL 包括在更广泛的“ TP53突变的急性髓性白血病”类别下。我们确定了 41 例 Mayo Clinic PEL 病例（平均年龄 66 岁，范围 27-86；71% 男性），并提供了骨髓形态、免疫表型、细胞遗传学和突变谱的综合说明。PEL 为原发性 14 例，治疗相关 14 例，继发性 12 例，未确定 1 例。所有病例均表达双等位基因TP53改变，包括TP53缺失/单个TP53突变（68%）、两个TP53突变（29%）或两个TP53缺失（3%）；其他突变并不常见。核型在所有病例中都是复杂的，90% 为单体。29 名患者的治疗细节可用：单独使用去甲基化剂 (HMA) ( n  = 5)、HMA + venetoclax ( n  = 12)、强化化疗 ( n  = 4)、支持治疗/其他 ( n  = 8)；没有记录到反应或同种异体干细胞移植，所有患者的中位死亡时间为 1.8 个月（范围 0.2-9.3）。目前的研究强调了一组一致且可重复的形态学和遗传特征，这些特征将 PEL 识别为一种独特的 AML 变体，其不良预后需要紧急关注。