Timothy J. Kirtek, Weina Chen, Jaryse C. Harris, Adam Bagg, Kathryn Foucar, Wayne Tam, Attilio Orazi, Eric D. Hsi, Robert P. Hasserjian, Sa A. Wang, David P. Ng, Tracy I. George, Min Shi, Kaaren K. Reichard, Emily Symes, Xinmin Zhang, Daniel A. Arber, Olga K. Weinberg
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引用次数: 0
摘要
1 引言致编辑：急性髓性白血病（AML）和血系不明确的急性白血病（ALAL）是多种多样的急性白血病，它们由形态学、免疫表型和遗传学特征所决定。急性髓细胞性白血病的特征是外周血和骨髓中髓系未成熟造血前体的克隆性扩增。急性髓细胞性白血病可能从头开始出现，也可能由先前的骨髓增生异常综合征（MDS）或骨髓增生异常/骨髓增生性肿瘤（MDS/MPN）演变而来，或在接受细胞毒或放射治疗后出现，称为治疗相关性急性髓细胞性白血病[1]。世界卫生组织（WHO）最近的分类--第五版《血淋巴肿瘤分类》（Classification of Haematolymphoid Tumours）和《骨髓和淋巴肿瘤国际共识分类》（International Consensus Classification of Myeloid and Lymphoid Neoplasms，ICC）--都允许在符合诊断和排除标准的情况下，将由 MDS 演变而来或与之相关的 AML 划分为不同的实体[2, 3]。这些亚类包括 WHO 的骨髓增生异常相关急性髓细胞性白血病和 ICC 的骨髓增生异常相关基因突变或骨髓增生异常相关细胞遗传学异常急性髓细胞性白血病。目前，这两种分类方法都认为 MDS 相关基因突变是 MDS 相关急性髓细胞性白血病（AML-MR）的特征，这种疾病的预后较差。在定义 AML-MR 的特征中，有一种突变被称为次级型突变或 MDS 相关突变，之所以这样命名，是因为在急性髓细胞性白血病的情况下，这些突变对于由先前的 MDS、MPN 或与治疗相关的克隆畸变引起的急性髓细胞性白血病具有高度特异性。SRSF2、SF3B1、U2AF1、ZRSR2、ASXL1、EZH2、BCOR 或 STAG2 基因突变对这些 "继发性 "急性髓细胞白血病的特异性高达 95%[4]。RUNX1 的体细胞突变通常与其他具有 AML-MR 特征的基因突变相关联，因此在 ICC 中被归入这一类别。RUNX1突变的急性髓细胞性白血病是WHO第四版中的一个暂定实体。ALALs的鼓泡群要么未显示任何明确的系谱，即急性未分化白血病（AUL），要么显示多系分化，即混合表型急性白血病（MPAL）。ALAL很罕见，约占急性白血病的4%，其中大多数是MPAL[3]。然而，MPAL 不包括符合其他定义类别标准的白血病，如具有明确遗传异常的急性髓细胞性白血病。对 ALAL 遗传基础的研究很有限，而且相关基因突变的异质性很大，有些与 ALL 相关，有些与 AML 相关，有些则两者都不相关。MDS相关基因突变可能存在于相当一部分ALAL病例中，其中RUNX1基因突变最为常见[5]。目前的分类方法对存在 MDS 相关基因突变的 ALAL 应如何分类尚不明确。然而，ALAL 的临床和遗传特征，包括那些与 MDS 相关的基因突变，仍然特征不清。我们这项研究的目的是确定MDS相关突变在ALAL中的意义，并与具有MDS相关突变的新发急性髓细胞性白血病病例进行比较。
Acute Leukemias of Ambiguous Lineage With MDS-Associated Mutations Show Similar Prognosis Compared to Acute Myeloid Leukemia With MDS-Associated Mutations: A Study From the Bone Marrow Pathology Group
期刊介绍：
The American Journal of Hematology offers extensive coverage of experimental and clinical aspects of blood diseases in humans and animal models. The journal publishes original contributions in both non-malignant and malignant hematological diseases, encompassing clinical and basic studies in areas such as hemostasis, thrombosis, immunology, blood banking, and stem cell biology. Clinical translational reports highlighting innovative therapeutic approaches for the diagnosis and treatment of hematological diseases are actively encouraged.The American Journal of Hematology features regular original laboratory and clinical research articles, brief research reports, critical reviews, images in hematology, as well as letters and correspondence.
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