妇产与遗传(电子版)2024,Vol.14Issue(1) :11-15.DOI:10.3868/j.issn.2095-1558.2024.01.003

ARID1A基因突变对子宫内膜样癌临床病理学特性影响的临床研究

Clinical study of ARID1A mutation on the clinicopathologic characteristics of endometrioid ad-enocarcinoma

相媛媛 李远明 韩燕华
妇产与遗传(电子版)2024,Vol.14Issue(1) :11-15.DOI:10.3868/j.issn.2095-1558.2024.01.003

ARID1A基因突变对子宫内膜样癌临床病理学特性影响的临床研究

Clinical study of ARID1A mutation on the clinicopathologic characteristics of endometrioid ad-enocarcinoma

相媛媛 1李远明 1韩燕华1
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作者信息

  • 1. 528400 中山市,中山市人民医院妇科
  • 折叠

摘要

目的 研究ARID1A基因突变对子宫内膜样癌临床病理学特性的影响.方法 选取2021年1月到12月于中山市人民医院住院确诊的子宫内膜样癌43例行全外显子测序,11例ARID1A基因突变为实验组,32例非ARID1A基因突变为对照组,比较实验组与对照组在肿瘤分期、肿瘤分化、脉管浸润、肌层浸润方面的差异.结果 在子宫内膜样癌中ARD1A基因突变率为25.6%,其中ARID1A合并PTEN突变率为16.3%,ARID1A合并PI3K突变率为9.3%,PIK3CA突变率为65.1%,PTEN突变率为60.5%.ARID1A基因突变组与对照组比较在肌层浸润深度方面的差异有统计学意义(P<0.05),在肿瘤分期、肿瘤分化程度、脉管浸润方面的差异无统计学意义(P>0.05).结论 ARID1A基因突变的子宫内膜样癌中通常存在PI3K通路的过度激活.ARID1A基因突变与子宫内膜样癌肌层浸润深度有关.

Abstract

Objective To study the effect of ARID1A gene mutation on the clinicopathologic characteristics of endometrioid adenocarcinoma.Methods 43 cases of endometrioid adenocarcinoma diagnosed in the Zhongshan City People's Hospital from January 2021 to December 2021 were selected for whole exome sequencing,11 cases of ARID1A gene mutation were in the experimental group,and 32 cases of non-ARID1A gene mutation were in the control group,and the differences in tumor stage,tumor differentiation,vascular invasion and muscle invasion between the experimental group and the control group were compared.Results The mutation rate of ARID1A in endometrioid adenocarcinoma was 25.6%,among which the mutation rate of ARID1A combined with PTEN was 16.3%,the mutation rate of ARID1A combined with PI3K was 9.3%,the mutation rate of PIK3CA was 65.1%,the mutation rate of PTEN was 60.5%.There was a significant difference between the ARID1A gene mutation group and the control group in terms of depth of myometrial invasion(P<0.05),but no significant difference in tumor stage,tumor differentiation and vascular invasion between the control group(P>0.05).Conclusions Excessive activation of PI3K pathway was commonly present in endometrioid adenocarcinoma with ARID1A mutations.The mutation of the ARID1A gene was associated with deep myometrial invasion in endometrioid adenocarcinoma.

关键词

子宫内膜样癌/AT丰富结合域1A/临床病理学特性

Key words

Endometrioid adenocarcinomathe/AT-richinteractivedomain 1A/Clinicopatholog-ic characteristics

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出版年

2024
妇产与遗传(电子版)
高等教育出版社 南方医科大学

妇产与遗传(电子版)

影响因子:0.462
ISSN:2095-1558
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