基于基因组学图谱构建的子宫平滑肌肉瘤前沿进展  

Advances in Uterine Leiomyosarcoma:Mapping Based on Genomics

作　　者：陈星羽 韦雅婧 梁炎春(审校)[3,4] CHEN Xing-yu;WEI Ya-jing;LIANG Yan-chun(Zhongshan School of Medicine,Sun Yat-sen University,Guangzhou 510080,China;Faculty of Health Sciences,University of Macao,Taipa 999078,Macao SAR,China;epartment of Obstetrics and Gynecology,The First Afiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China;Department of Obstetrics and Gynecology,Guangxi Hospital Division of the First Affiliated Hospital,Sun Yat-sen University)

机构地区：[1]中山大学中山医学院,广州510080 [2]澳门大学健康科学学院,中国澳门 [3]中山大学附属第一医院妇产科 [4]中山大学附属第一医院广西医院妇产科

出　　处：《国际妇产科学杂志》2024年第6期641-647,共7页Journal of International Obstetrics and Gynecology

基　　金：国家重点研发计划(2022YFC2704100)。

摘　　要：子宫平滑肌肉瘤(uterine leiomyosarcoma,uLMS)是最常见的子宫肉瘤之一,具有染色体不稳定、侵袭性强和预后差等特征,其诊断主要基于组织病理学,其他辅助检验检查技术缺乏特异性。近年随着高通量测序技术的成熟,基因组学在uLMS的发病机制研究中发展迅猛,发现了多个基因上调、基因下调、基因突变、基因融合等特异性基因分子的改变。综述基因组学在uLMS基因标志物方面的研究进展,并根据肿瘤的生物学行为对众多基因分子的改变进行分类,以构建多角度、多方面的uLMS异质性基因图谱,为uLMS分子水平的精准诊断及早期诊疗提供依据及方向。Uterineleiomyosarcoma(uLMS)is one of the most common uterine sarcomas with features such as chromosome instability,strong invasiveness and poor prognosis.The diagnosis of uLMS is mainly based on histopathology,with a lack of specificity in other auxiliary examination techniques.In recent years,with the maturation of high-throughput sequencing technology,genomics has witnessed rapid development in the research on the pathogenesis of uLMS,uncovering multiple genespecific molecular alterations such as gene upregulation,downregulation,mutations,and gene fusions.This review will systematically introduce the latest progress of uLMS in genomics research.The goal is to construct a multi-angle and multi--faceted heterogenetic map of uLMS,and provide basis and direction for the accurate and early diagnosis of uLMS at the molecular level as well.

关 键 词：子宫肿瘤 平滑肌肉瘤 高通量核苷酸序列分析 基因组学 肿瘤生物学行为 

分 类 号：R737.33[医药卫生—肿瘤]