Han Caixia, Gao Xuefeng, Li Yonghui, Zhang Juan, Yang Erna, Zhang Li, Yu Li
Department of Hematology and Oncology, International Cancer Center, Shenzhen Key Laboratory of Precision Medicine for Hematological Malignancies, Shenzhen University General Hospital, Shenzhen University Clinical Medical Academy, Shenzhen University Health Science Center, Shenzhen, China.
Front Oncol. 2021 Apr 13;11:579881. doi: 10.3389/fonc.2021.579881. eCollection 2021.
The occurrence of gene mutation is a major contributor to the initiation and propagation of acute myeloid leukemia (AML). Accumulating evidence suggests that genes encoding cohesin subunits have a high prevalence of mutations in AML, especially in the t(8;21) subtype. Therefore, it is important to understand how cohesin mutations contribute to leukemogenesis. However, the fundamental understanding of cohesin mutation in clonal expansion and myeloid transformation in hematopoietic cells remains ambiguous. Previous studies briefly introduced the cohesin mutation in AML; however, an in-depth summary of mutations in AML was not provided, and the correlation between cohesin and AML1-ETO in t (8;21) AML was also not analyzed. By summarizing the major findings regarding the cohesin mutation in AML, this review aims to define the characteristics of the cohesin complex mutation, identify its relationships with co-occurring gene mutations, assess its roles in clonal evolution, and discuss its potential for the prognosis of AML. In particular, we focus on the function of cohesin mutations in RUNX1-RUNX1T1 fusion.
基因突变的发生是急性髓系白血病（AML）起始和进展的主要促成因素。越来越多的证据表明，编码黏连蛋白亚基的基因在AML中突变发生率很高，尤其是在t(8;21)亚型中。因此，了解黏连蛋白突变如何促进白血病发生很重要。然而，对于造血细胞中黏连蛋白突变在克隆扩增和髓系转化中的基本认识仍不明确。以往研究简要介绍了AML中的黏连蛋白突变；然而，未对AML中的突变进行深入总结，也未分析t(8;21) AML中黏连蛋白与AML1-ETO之间的相关性。通过总结AML中黏连蛋白突变的主要研究结果，本综述旨在明确黏连蛋白复合体突变的特征，确定其与同时发生的基因突变的关系，评估其在克隆进化中的作用，并探讨其对AML预后的潜在影响。特别是，我们重点关注黏连蛋白突变在RUNX1-RUNX1T1融合中的功能。
