Aplastic anemia is rare disorder presenting with bone marrow failure syndrome due to autoimmune destruction of early hematopoietic stem cells (HSCs) and stem cell progenitors. Recent advances in newer genomic sequencing and other molecular techniques have contributed to a better understanding of the pathogenesis of aplastic anemia with respect to the inflammaging, somatic mutations, cytogenetic abnormalities and defective telomerase functions of HSCs. These have been summarized in this review and may be helpful in differentiating aplastic anemia from hypocellular myelodysplastic syndrome. Furthermore, responses to immunosuppressive therapy and outcomes may be determined by molecular pathogenesis of HSCs autoimmune destruction, as well as treatment personalization in the future.

中文翻译：

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作为再生性造血干细胞疾病的再生障碍性贫血。

再生障碍性贫血是一种罕见的疾病，由于早期造血干细胞（HSC）和干细胞祖细胞的自身免疫破坏而出现骨髓衰竭综合征。关于HSC的发炎，体细胞突变，细胞遗传异常和端粒酶功能缺陷，新的基因组测序和其他分子技术的最新进展有助于更好地理解再生障碍性贫血的发病机理。这些已在本综述中进行了总结，可能有助于区分再生障碍性贫血与细胞增生性骨髓增生异常综合征。此外，对免疫抑制疗法和预后的反应可能由HSC自身免疫破坏的分子发病机制以及将来的治疗个性化决定。