Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health.
Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health.
Semin Hematol. 2022 Jul;59(3):137-142. doi: 10.1053/j.seminhematol.2022.08.001. Epub 2022 Aug 12.
Aplastic anemia (AA) is the prototypic bone marrow failure syndrome and can be classified as either acquired or inherited. Inherited forms are due to the effects of germline mutations, while acquired AA is suspected to result from cytotoxic T-cell mediated immune attack on hematopoietic stem and progenitor cells. Once thought to be a purely "benign" condition, clonality in the form of chromosomal abnormalities and single nucleotide variants is now well recognized in AA. Mechanisms underpinning this clonality likely relate to selection of clones that allow immune evasion or increased cell survival the marrow environment under immune attack. Widespread use and availability of next generation and other genetic sequencing techniques has enabled us to better understand the genomic landscape of aplastic anemia. This review focuses on the current concepts associated with clonality, in particular somatic mutations and their impact on diagnosis and clinical outcomes in immune aplastic anemia.
再生障碍性贫血（AA）是典型的骨髓衰竭综合征，可分为获得性或遗传性。遗传性形式是由于种系突变的影响，而获得性 AA 据推测是由于细胞毒性 T 细胞介导的对造血干细胞和祖细胞的免疫攻击所致。曾经被认为是一种纯粹的“良性”疾病，现在在 AA 中已经很好地认识到了以染色体异常和单核苷酸变异形式存在的克隆性。这种克隆性的机制可能与允许免疫逃逸或增加细胞存活的克隆的选择有关，在免疫攻击下骨髓环境中。下一代和其他基因测序技术的广泛应用和可用性使我们能够更好地了解再生障碍性贫血的基因组景观。本综述重点介绍了与克隆性相关的当前概念，特别是体细胞突变及其对免疫性再生障碍性贫血的诊断和临床结果的影响。
