ESR1外显子的激活突变与激素受体阳性乳腺癌细胞耐药的相关性

Correlation between activation mutations in ESR1 exons and endocrine resistance in hormone receptor-positive breast cancer cells

近年来随着乳腺癌治疗策略的不断优化,内分泌治疗耐药成为众多临床医生和科研工作者所关注的问题,其机制被不断研究深入,包括ESR1突变、PI3K/Akt/mTOR信号传导通路、自噬、长非编码RNA的失调等,其中关于ESR1基因突变导致的内分泌治疗耐药较多,这也是该综述重点讨论的内容。ESR1突变包括点突变、基因扩增、基因融合等形式,其中以LBD段的突变多见,该综述总结了ESR1突变与激素受体阳性乳腺癌细胞耐药的有关内容,指出基因检测对判断预后、指导治疗的潜在价值,提出可能的治疗策略。

With continuous optimization of treatment strategy of breast cancer recently,endocrine resistance has become a concern of many clinicians and researchers.With the deepening of the research,the mechanisms on endocrine resistance have been found,including ESR1 mutation,PI3K/Akt/mTOR signaling pathways,autophagy,long noncoding RNA disorders and so on.Endocrine resistance caused by ESR1 gene mutation has been well studied which includes point mutation,gene amplification and gene fusion.Among them,mutation of LBD segment is more common.ESR1 mutations and hormone receptor-positive breast cancer cells with endocrine resistance will be summarized in this article which points out value of gene detection.