国际妇产科学杂志2024,Vol.51Issue(6) :641-647.DOI:10.12280/gjfckx.20240791

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

陈星羽 韦雅婧 梁炎春
国际妇产科学杂志2024,Vol.51Issue(6) :641-647.DOI:10.12280/gjfckx.20240791

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

陈星羽 1韦雅婧 2梁炎春3
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作者信息

  • 1. 510080 广州,中山大学中山医学院
  • 2. 澳门大学健康科学学院
  • 3. 中山大学附属第一医院妇产科;中山大学附属第一医院广西医院妇产科
  • 折叠

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.

Abstract

Uterine leiomyosarcoma(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 gene-specific 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

Key words

Uterine neoplasms/Leiomyosarcoma/High-throughput nucleotide sequencing/Genomics/Tumor biological behavior

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出版年

2024
国际妇产科学杂志
天津市医学科学技术信息研究所

国际妇产科学杂志

CSTPCD
影响因子:1.155
ISSN:1674-1870
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