Department of Hematology, Multi-Specialist Hospital Gorzów Wielkopolski, Faculty of Medicine and Health Science, University of Zielona Góra, Gorzów Wielkopolski, Poland.
Department of Hematology and Bone Marrow Transplantation, Poznań University of Medical Sciences, Poznań, Poland.
Stem Cell Rev Rep. 2020 Jun;16(3):472-481. doi: 10.1007/s12015-020-09971-y.
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.
再生障碍性贫血是一种罕见疾病，由于早期造血干细胞（HSCs）和干细胞祖细胞的自身免疫破坏，表现为骨髓衰竭综合征。最近在新的基因组测序和其他分子技术方面的进展，有助于更好地了解再生障碍性贫血的发病机制，包括 HSCs 的炎症老化、体细胞突变、细胞遗传学异常和端粒酶功能缺陷。这些在本综述中进行了总结，可能有助于将再生障碍性贫血与低细胞性骨髓增生异常综合征区分开来。此外，HSCs 自身免疫破坏的分子发病机制以及未来的治疗个体化，可能决定了对免疫抑制治疗的反应和结果。
