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[体细胞突变与子宫内膜癌淋巴结转移相关]

[ Somatic Mutations Are Associated With Lymph Node Metastasis in Endometrial Cancer].

作者信息

Shen Qingyu, Tian Chenfan, Luo Xiaoxiao, Yang Fan, Jiang Peng, Zheng Yunfeng

机构信息

( 400016) Department of Obstetrics and Gynecology, The First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China.

( 401120) Department of Gynecology, Yubei Maternal and Child Health Hospital, Chongqing 401120, China.

出版信息

Sichuan Da Xue Xue Bao Yi Xue Ban. 2025 Mar 20;56(2):434-441. doi: 10.12182/20250360106.

DOI:10.12182/20250360106
PMID:40599290
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12207049/
Abstract

OBJECTIVE

To investigate the expression levels and mutation status of phosphatidylinositol-4, 5-bisphosphate3-kinase catalytic subunit alpha () in endometrial cancer (EC) and evaluate its association with lymph node metastasis in EC.

METHODS

We retrosepctively collected and analyzed EC genetic mutation testing data submitted to the Molecular Detection Center, The First Affiliated Hospital of Chongqing Medical University between July 2020 and June 2022. The mutation rate of gene was calculated based on the sequencing results of EC patients, and the correlation between mutations and clinical pathological parameters, as well as protein expression consistency, was analyzed accordingly.

RESULTS

A total of 97 EC patients were enrolled in this study, and mutations were identified in approximately 48.5% (47 out of 97 cases). The rate of lymph node metastasis in patients with mutations was higher than that in patients with wild-type (21.3% vs. 6.0%, = 0.027). Findings from univariate and multivariate logistic analyses indicated that histological subtype Ⅱ (odds ratio [OR] = 5.51; 95% CI, 1.08-28.06; = 0.040), positive result for lymphovascular space invasion (LVSI) (OR = 7.96; 95% CI, 1.37-46.44; = 0.021), and mutation (OR = 8.58; 95% CI, 1.51-48.84; = 0.015) were independent risk factors for lymph node metastasis in EC. In addition, the receiver-operating characteristic (ROC) curves demonstrated that the combined use of clinicopathological parameters and mutations could more accurately predict lymph node metastasis in EC, with an area under the curve of 0.824 (95% CI, 0.678-0.970). It is noteworthy that there was a high consistency between mutations and its protein expression, and EC patients with positive expression of PIK3CA protein had a higher rate of lymph node metastasis (53.8% vs. 9.1%, = 0.078).

CONCLUSION

somatic mutations are strongly correlated with lymph node metastasis in EC.

摘要

目的

探讨磷脂酰肌醇-4,5-二磷酸3-激酶催化亚基α(PIK3CA)在子宫内膜癌(EC)中的表达水平及突变状态,并评估其与EC淋巴结转移的相关性。

方法

回顾性收集并分析2020年7月至2022年6月期间提交至重庆医科大学附属第一医院分子检测中心的EC基因突变检测数据。根据EC患者的测序结果计算PIK3CA基因的突变率,并分析PIK3CA基因突变与临床病理参数之间的相关性以及蛋白表达一致性。

结果

本研究共纳入97例EC患者,约48.5%(97例中的47例)检测到PIK3CA基因突变。PIK3CA基因突变患者的淋巴结转移率高于野生型PIK3CA患者(21.3%对6.0%,P = 0.027)。单因素和多因素逻辑回归分析结果表明,组织学Ⅱ型(比值比[OR]=5.51;95%可信区间,1.08 - 28.06;P = 0.040)、淋巴管间隙浸润(LVSI)阳性结果(OR = 7.96;95%可信区间,1.37 - 46.44;P = 0.021)以及PIK3CA基因突变(OR = 8.58;95%可信区间,1.51 - 48.84;P = 0.015)是EC淋巴结转移的独立危险因素。此外,受试者工作特征(ROC)曲线表明,联合使用临床病理参数和PIK3CA基因突变能够更准确地预测EC中的淋巴结转移,曲线下面积为0.824(95%可信区间,0.678 - 0.970)。值得注意的是,PIK3CA基因突变与其蛋白表达之间具有高度一致性,PIK3CA蛋白表达阳性的EC患者淋巴结转移率更高(53.8%对9.1%,P = 0.078)。

结论

PIK3CA体细胞突变与EC中的淋巴结转移密切相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a014/12207049/036e8bf50cfd/scdxxbyxb-56-2-434-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a014/12207049/14d1fe984499/scdxxbyxb-56-2-434-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a014/12207049/fe1ec7281edb/scdxxbyxb-56-2-434-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a014/12207049/036e8bf50cfd/scdxxbyxb-56-2-434-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a014/12207049/14d1fe984499/scdxxbyxb-56-2-434-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a014/12207049/fe1ec7281edb/scdxxbyxb-56-2-434-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a014/12207049/036e8bf50cfd/scdxxbyxb-56-2-434-3.jpg

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本文引用的文献

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