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检测血浆中SHOX2、HOXA9、SEPTIN9和RASSF1A的甲基化以及循环癌细胞用于胆管癌的临床诊断和监测。

Detecting plasma SHOX2, HOXA9, SEPTIN9, and RASSF1A methylation and circulating cancer cells for cholangiocarcinoma clinical diagnosis and monitoring.

作者信息

Yu Jing, Liu Qiu-Chen, Lu Shuang-Yan, Wang Shun, Zhang Hua

机构信息

Department of Laboratory, Wuhan Hospital of Traditional Chinese and Western Medicine (Wuhan's TCWM Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China.

Department of Laboratory, Sinopharm Dongfeng General Hospital, Hubei University of Medicine, Shiyan 442008, Hubei Province, China.

出版信息

World J Gastrointest Oncol. 2025 Apr 15;17(4):104253. doi: 10.4251/wjgo.v17.i4.104253.

DOI:10.4251/wjgo.v17.i4.104253
PMID:40235897
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11995335/
Abstract

BACKGROUND

Cholangiocarcinoma (CCA), also known as bile duct cancer, is a devastating malignancy primarily affecting the biliary tract.

AIM

To assess their performance in clinical diagnosis and monitoring of CCA, plasma methylation and circulating tumor cells were detected.

METHODS

Plasma samples were collected from Hubei Cancer Hospital ( = 156). Plasma DNA was tested to detect SHOX2, HOXA9, SEPTIN9, and RASSF1A methylation using TaqMan PCR. Circulating tumor cells (CTCs) were detected in the peripheral blood of patients using the United States Food and Drug Administration-approved cell search system before and after clinical therapy. The CCA diagnostic value was estimated using the area under the curve. The independent prognosis risk factors for patients with CCA were estimated using Cox and logistic regression analyses.

RESULTS

The sensitivity and specificity of the four DNA plasma methylations exhibited 64.74% sensitivity and 93.88% specificity for detecting CCA. The receiver operating characteristic curve of the combined value for CCA diagnosis in plasma was 0.828 ± 0.032. RASSF1A plasma methylation was related to the prognosis of patients with CCA. We determined the prognostic hazard ratio for CCA using CTC count, tumor stage, methylation, and carbohydrate antigen 19-9 levels as key factors. Our overall survival nomogram achieved a C-index of 0.705 (0.605-0.805).

CONCLUSION

SHOX2, HOXA9, SEPTIN9, and RASSF1A plasma methylation demonstrated increased sensitivity for diagnosing CCA. RASSF1A plasma methylation and CTCs were valuable predictors to assess CCA prognosis and recurrence.

摘要

背景

胆管癌(CCA),也称为胆管癌,是一种主要影响胆道的毁灭性恶性肿瘤。

目的

为评估血浆甲基化和循环肿瘤细胞在CCA临床诊断和监测中的表现,对其进行了检测。

方法

从湖北省肿瘤医院收集血浆样本(n = 156)。使用TaqMan PCR检测血浆DNA,以检测SHOX2、HOXA9、SEPTIN9和RASSF1A甲基化。在临床治疗前后,使用美国食品药品监督管理局批准的细胞搜索系统检测患者外周血中的循环肿瘤细胞(CTC)。使用曲线下面积评估CCA的诊断价值。使用Cox和逻辑回归分析评估CCA患者的独立预后危险因素。

结果

四种DNA血浆甲基化的敏感性和特异性在检测CCA时分别表现为64.74%的敏感性和93.88%的特异性。血浆中CCA诊断综合值的受试者工作特征曲线为0.828±0.032。RASSF1A血浆甲基化与CCA患者的预后相关。我们将CTC计数、肿瘤分期、甲基化和糖类抗原19-9水平作为关键因素,确定了CCA的预后风险比。我们的总生存列线图的C指数为0.705(0.605 - 0.805)。

结论

SHOX2、HOXA9、SEPTIN9和RASSF1A血浆甲基化对CCA诊断的敏感性增加。RASSF1A血浆甲基化和CTC是评估CCA预后和复发的有价值预测指标。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09f2/11995335/2cb65840dea8/104253-g008.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09f2/11995335/2cb65840dea8/104253-g008.jpg

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本文引用的文献

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Identification of immune related gene signature for predicting prognosis of cholangiocarcinoma patients.鉴定免疫相关基因特征,预测胆管癌患者的预后。
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