名字里有什么?急性髓系白血病伴不典型增生的多种分类。

Nicholas C Taylor, Joanna L Conant, Juli-Anne Gardner
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摘要

目的:急性髓系白血病伴骨髓增生异常相关改变(AML- mrc)是AML的一种高风险亚型,最近经历了重大的重新分类。正确的分类需要整合临床病史和诊断研究,包括外周血和骨髓形态学、流式细胞术、细胞遗传学和分子研究。后者具有重要的临床和预后意义。我们报告了一例55岁男性AML-MRC, TP53致病性变异和KMT2A (MLL)扩增而没有重排。我们讨论了通过多种方式进行诊断测试的介绍、重要性,以及2017年世界卫生组织(WHO)修订的第4版与世卫组织第5版以及国际共识分类(ICC)之间分类和诊断标准的变化。
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What's in a Name? The Many Classifications of Acute Myeloid Leukemia with Dysplasia.

Objectives: Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a high-risk subtype of AML that has recently undergone significant reclassification. Proper classification requires the integration of clinical history and diagnostic studies including peripheral blood and bone marrow morphology, flow cytometry, cytogenetic and molecular studies. The latter have significant clinical and prognostic implications. We present a case of a 55-year-old male diagnosed with AML-MRC with a pathogenic variant in TP53 and amplification of KMT2A (MLL) without rearrangement. We discuss presentation, importance of diagnostic testing through multiple modalities, and the changes in classification and diagnostic criteria between the 2017 World Health Organization (WHO) revised 4th edition and the WHO 5th edition and International Consensus Classification (ICC).

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