Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA.
Mod Pathol. 2011 Mar;24(3):375-83. doi: 10.1038/modpathol.2010.194. Epub 2010 Nov 19.
Pure erythroid leukemia (PEL) is rare, characterized by a neoplastic proliferation of erythroblasts. Given recent incorporation of molecular genetic findings and clinical features in the revised 2008 World Health Organization classification scheme of acute myeloid leukemia, we questioned if PEL still remains as a distinct subtype of acute myeloid leukemia. In this retrospective study, we identified 18 cases of acute leukemia with morphologic and immunophenotypic features of PEL. Following the current World Health Organization classification algorithm, these cases were classified as: 13 acute myeloid leukemia with myelodysplasia-related changes, 3 therapy-related acute myeloid leukemia, and 1 chronic myelogenous leukemia blast crisis, and one unclassifiable due to insufficient clinical information. All 16 cases with cytogenetic data harbored an extremely complex karyotype and the median overall survival of the 18 patients was 3 months (range, 1-7 months). This survival was significantly shorter than that of patients with acute erythroid leukemia, erythroid/myeloid subtype, or acute myeloid leukemia with myelodysplasia-related changes with erythroid predominance (P<0.001). PEL is characterized as a neoplastic erythroid hyperproliferation with maturation arrest. E-cadherin emerged as the most sensitive and specific marker for immature erythroblasts, and was helpful in distinguishing PEL from other erythroid proliferations. Our study showed that the criteria for acute myeloid leukemia in the 2008 World Health Organization system facilitate reclassification of PEL cases into other acute myeloid leukemia categories, mainly of acute myeloid leukemia with myelodysplasia-related changes. These new assigned categories fail to capture the distinct features of PEL, where the phenotype of PEL correlates with a very complex karyotype and an extremely aggressive clinical course.
纯红白血病（PEL）较为罕见，其特征为红系前体细胞的肿瘤性增殖。鉴于最近在修订的 2008 年世界卫生组织急性髓系白血病分类方案中纳入了分子遗传学发现和临床特征，我们质疑 PEL 是否仍然是急性髓系白血病的一个独特亚型。在这项回顾性研究中，我们鉴定了 18 例具有 PEL 形态学和免疫表型特征的急性白血病病例。根据当前的世界卫生组织分类算法，这些病例被分类为：13 例伴骨髓增生异常相关改变的急性髓系白血病，3 例治疗相关的急性髓系白血病，1 例慢性髓系白血病急变期，由于临床信息不足，1 例无法分类。所有 16 例具有细胞遗传学数据的病例均具有极其复杂的核型，18 例患者的中位总生存期为 3 个月（范围 1-7 个月）。这一生存期明显短于急性红细胞性白血病、红细胞/髓系亚型或伴红细胞优势的伴骨髓增生异常相关改变的急性髓系白血病患者（P<0.001）。PEL 的特征为成熟受阻的肿瘤性红系过度增殖。E-钙黏蛋白成为不成熟红细胞最敏感和最特异的标志物，有助于将 PEL 与其他红细胞增殖区分开来。我们的研究表明，2008 年世界卫生组织系统中的急性髓系白血病标准有助于将 PEL 病例重新分类为其他急性髓系白血病类别，主要是伴骨髓增生异常相关改变的急性髓系白血病。这些新分类未能捕捉到 PEL 的独特特征，PEL 的表型与非常复杂的核型和极其侵袭性的临床病程相关。
