Department of Pathology and Laboratory Medicine, Weill Cornell Medical College/New York Presbyterian Hospital, New York, NY, USA.
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
Mod Pathol. 2018 Jun;31(6):873-880. doi: 10.1038/s41379-018-0001-2. Epub 2018 Feb 5.
The 2016 WHO update changed the diagnostic criteria for myeloid neoplasms with erythroid predominance, limiting the diagnosis of acute myeloid leukemia to cases with ≥20% blasts in the bone marrow or peripheral blood. Although acute myeloid leukemia with ≥50% erythroid cells has historically been presumed to represent acute myeloid leukemia with myelodysplasia-related changes, this hypothesis has never been systematically examined. We sought to investigate the clinicopathologic, cytogenetic, and molecular features of acute myeloid leukemia with erythroid predominance to subclassify cases as defined by the 2016 WHO. We retrospectively identified patients with ≥50% erythroid precursors and either ≥20% bone marrow blasts or ≥20% peripheral blood blasts at the time of initial diagnosis at seven major academic centers. Laboratory and clinical data were obtained. Patients were then reclassified according to 2016 WHO guidelines. A matched control group was also obtained. We identified 146 patients with acute myeloid leukemia with erythroid predominance (62% M, average age: 62 y, range: 5-93 y). Of these, 91 were acute myeloid leukemia with myelodysplasia-related changes, 20 (14%) were therapy-related myeloid neoplasm, 23 (16%) acute myeloid leukemia, not otherwise specified, and ten acute myeloid leukemia with recurrent cytogenetic/molecular abnormalities. The bone marrow blast count ranged from 9-41%. There was no difference in survival for patients with erythroid predominance compared to patients with acute myeloid leukemia without erythroid proliferations. In a multivariable analysis, cytogenetic risk was the only significant predictor of survival. We find a significantly lower rate of FLT3 and RAS pathway alterations in acute myeloid leukemia with erythroid predominance compared to controls. Our study is one of the first to apply the 2016 WHO guidelines for classification of acute myeloid leukemia. We find acute myeloid leukemia with erythroid predominance is a heterogeneous group and that erythroid richness has no impact on overall survival.
2016 年世卫组织更新改变了以红细胞为主的骨髓增生性肿瘤的诊断标准，将急性髓系白血病的诊断仅限于骨髓或外周血中≥20%的原始细胞。尽管历史上认为≥50%红细胞的急性髓系白血病代表伴有骨髓增生异常相关改变的急性髓系白血病，但这一假说从未得到系统研究。我们试图研究以红细胞为主的急性髓系白血病的临床病理、细胞遗传学和分子特征，根据 2016 年世卫组织的标准对病例进行分类。我们回顾性地确定了在七个主要学术中心初始诊断时≥50%原始细胞和/或≥20%骨髓原始细胞或≥20%外周血原始细胞的患者。获得了实验室和临床数据。然后根据 2016 年世卫组织指南对患者进行重新分类，并获得了匹配的对照组。我们共确定了 146 例以红细胞为主的急性髓系白血病患者（62%为男性，平均年龄 62 岁，范围为 5-93 岁）。其中 91 例为伴有骨髓增生异常相关改变的急性髓系白血病，20 例（14%）为治疗相关髓系肿瘤，23 例（16%）为未特指的急性髓系白血病，10 例为伴有复发性细胞遗传学/分子异常的急性髓系白血病。骨髓原始细胞计数范围为 9-41%。与无红细胞增生的急性髓系白血病患者相比，以红细胞为主的患者的生存无差异。在多变量分析中，细胞遗传学风险是生存的唯一显著预测因素。与对照组相比，以红细胞为主的急性髓系白血病中 FLT3 和 RAS 通路改变的发生率明显较低。我们的研究是首次应用 2016 年世卫组织急性髓系白血病分类标准的研究之一。我们发现以红细胞为主的急性髓系白血病是一组异质性疾病，红细胞丰富度对总生存率没有影响。
