Advances in Uterine Leiomyosarcoma：Mapping Based on Genomics

doi:10.12280/gjfckx.20240791

Abstract

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.

Key words: Uterine neoplasms, Leiomyosarcoma, High-throughput nucleotide sequencing, Genomics, Tumor biological behavior

CHEN Xing-yu, WEI Ya-jing, LIANG Yan-chun. Advances in Uterine Leiomyosarcoma：Mapping Based on Genomics[J]. Journal of International Obstetrics and Gynecology, 2024, 51(6): 641-647.

Figures/Tables 5

References 55

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基因	相关通路效应	检测技术	参考文献
PTBP1、AGR2、 DUSP2、NR4A2、 MT1G、SIK1	抑制肿瘤细胞生长	WGS	[10]
PTEN	下调细胞增殖通路	WGS	[12]
TP53	抑制肿瘤细胞生长	WGS	[12]
RB1	抑制细胞周期进展	WGS	[12]
VIPR2	抑制肿瘤细胞生长	WGS	[12]
PDCD1	免疫逃逸	全外显子组测序	[13]
CDKN2C	调控细胞周期	杂交捕获测序	[16]
DPP6	未明确	GEO数据库	[21]
MFAP5	抑制肿瘤侵袭性	GEO数据库	[21]

基因	相关通路效应	检测技术	参考文献
PTBP1、AGR2、 DUSP2、NR4A2、 MT1G、SIK1	抑制肿瘤细胞生长	WGS	[10]
PTEN	下调细胞增殖通路	WGS	[12]
TP53	抑制肿瘤细胞生长	WGS	[12]
RB1	抑制细胞周期进展	WGS	[12]
VIPR2	抑制肿瘤细胞生长	WGS	[12]
PDCD1	免疫逃逸	全外显子组测序	[13]
CDKN2C	调控细胞周期	杂交捕获测序	[16]
DPP6	未明确	GEO数据库	[21]
MFAP5	抑制肿瘤侵袭性	GEO数据库	[21]

基因/染色体	相关通路效应	检测技术	参考文献
5p、17p	与肿瘤预后相关	比较基因组杂交分析	[23]
CCNE1	诱发染色体不稳定	WGS	[12]
TDO2	抑制抗肿瘤免疫反应	WGS	[12]
MAP2K4、RIT1	未知	外显子测序	[13]
SHARPIN	促进细胞增殖	外显子测序	[26]
ZNF217	促进细胞增殖与侵袭	GEPIA统计分析	[27]
NRDC	促进细胞迁移和黏附	GEPIA统计分析	[27]
NKX6-1	促进肿瘤细胞增殖	TCGA数据分析	[30]
FGF5	促进血管生成、侵袭转移	DNA和RNA测序	[31]
PAX3	影响细胞分化、增殖、转移	DNA和RNA测序	[31]

基因/染色体	相关通路效应	检测技术	参考文献
5p、17p	与肿瘤预后相关	比较基因组杂交分析	[23]
CCNE1	诱发染色体不稳定	WGS	[12]
TDO2	抑制抗肿瘤免疫反应	WGS	[12]
MAP2K4、RIT1	未知	外显子测序	[13]
SHARPIN	促进细胞增殖	外显子测序	[26]
ZNF217	促进细胞增殖与侵袭	GEPIA统计分析	[27]
NRDC	促进细胞迁移和黏附	GEPIA统计分析	[27]
NKX6-1	促进肿瘤细胞增殖	TCGA数据分析	[30]
FGF5	促进血管生成、侵袭转移	DNA和RNA测序	[31]
PAX3	影响细胞分化、增殖、转移	DNA和RNA测序	[31]

基因	基因突变后的效应	检测技术	参考文献
TP53、RB1	细胞增殖失控	WGS	[7]
ATRX	抑制端粒酶、促进细胞增殖	WGS	[35]
PTEN	促进细胞增殖	WGS	[8]
MED12	增强耐药性、侵袭性	WGS	[36]
BCL-2	增强耐药性，抵抗细胞凋亡	全外显子组测序	[37]
BRCA2	增加细胞发生DNA损伤	全外显子组测序	[38]
FRS3、SH2B3、SARM1、 BLK、FAM120A	酪氨酸激酶通路异常、细胞增殖异常	全外显子组测序	[38]
PDGFRB、CDKN2A/B、TERT	高度侵袭性、频繁的远处转移	全外显子组测序	[40]