基于游离 DNA 的 ESR1 基因突变检测在乳腺癌中的诊断准确性：系统评价和诊断试验准确性的荟萃分析。
Diagnostic accuracy of ESR1 mutation detection by cell-free DNA in breast cancer: a systematic review and meta-analysis of diagnostic test accuracy.
机构信息
Gastrointestinal Cancer Research Center, Non-Communicable Diseases Institute, Mazandaran University of Medical Sciences, Moallem Sq, Sari, Sari, 44817844718, Iran.
Student Research Committee, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
出版信息
BMC Cancer. 2024 Jul 28;24(1):908. doi: 10.1186/s12885-024-12674-z.
BACKGROUND
Estrogen receptors express in nearly 70% of breast cancers (ER-positive). Estrogen receptor alpha plays a fundamental role as a significant factor in breast cancer progression for the early selection of therapeutic approaches. Accordingly, there has been a surge of attention to non-invasive techniques, including circulating Cell-free DNA (ccfDNA) or Cell-Free DNA (cfDNA), to detect and track ESR1 genotype. Therefore, this study aimed to examine the diagnosis accuracy of ESR1 mutation detection by cell-free DNA in breast cancer patientsthrough a systematic review and comprehensive meta-analysis.
METHODS
PubMed, Embase, and Web of Science databases were searched up to 6 April 2022. Diagnostic studies on ESR1 measurement by cfDNA, which was confirmed using the tumour tissue biopsy, have been included in the study. The sensitivity, specificity, accuracy, positive predictive value (PPV), negative predictive value (NPV), positive likelihood ratio (PLR) and negative likelihood ratio (NLR) were considered to analyse the data.
RESULTS
Out of 649 papers, 13 papers with 15 cohorts, including 389 participants, entered the meta-analyses. The comprehensive meta-analysis indicated a high sensitivity (75.52, 95% CI 60.19-90.85), specificity (88.20, 95% CI 80.99-95.40), and high accuracy of 88.96 (95% CI 83.23-94.69) for plasma ESR1. We also found a moderate PPV of 56.94 (95% CI 41.70-72.18) but a high NPV of 88.53 (95% CI 82.61-94.44). We also found an NLR of 0.443 (95% CI 0.09-0.79) and PLR of 1.60 (95% CI 1.20-1.99).
CONCLUSION
This systematic review and comprehensive meta-analysis reveal that plasma cfDNA testing exhibits high sensitivity and specificity in detecting ESR1 mutations in breast cancer patients. This suggests that the test could be a valuable diagnostic tool. It may serve as a dependable and non-invasive technique for identifying ESR1 mutations in breast cancer patients. However, more extensive research is needed to confirm its prognostic value.
背景
雌激素受体在近 70%的乳腺癌（ER 阳性）中表达。雌激素受体 α 作为乳腺癌进展的重要因素，在早期选择治疗方法中起着至关重要的作用。因此，人们对包括循环无细胞 DNA（ccfDNA）或游离 DNA（cfDNA）在内的非侵入性技术产生了浓厚的兴趣，以检测和跟踪 ESR1 基因型。因此，本研究旨在通过系统评价和综合荟萃分析，检查游离 DNA 中 ESR1 突变检测在乳腺癌患者中的诊断准确性。
方法
检索了 PubMed、Embase 和 Web of Science 数据库，截至 2022 年 4 月 6 日。研究纳入了使用肿瘤组织活检证实的 cfDNA 中 ESR1 测量的诊断研究。分析数据时考虑了敏感性、特异性、准确性、阳性预测值（PPV）、阴性预测值（NPV）、阳性似然比（PLR）和阴性似然比（NLR）。
结果
在 649 篇论文中，有 13 篇论文包含 15 个队列，共 389 名参与者，纳入了荟萃分析。综合荟萃分析显示，血浆 ESR1 的高敏感性（75.52%，95%CI 60.19%-90.85%）、高特异性（88.20%，95%CI 80.99%-95.40%）和高准确性（88.96%，95%CI 83.23%-94.69%）。我们还发现中等 PPV 为 56.94%（95%CI 41.70%-72.18%），但高 NPV 为 88.53%（95%CI 82.61%-94.44%）。我们还发现 NLR 为 0.443（95%CI 0.09-0.79）和 PLR 为 1.60（95%CI 1.20-1.99）。
结论
本系统评价和综合荟萃分析表明，血浆 cfDNA 检测在检测乳腺癌患者的 ESR1 突变方面具有较高的敏感性和特异性。这表明该检测可能是一种有价值的诊断工具。它可能成为一种可靠且非侵入性的技术，用于识别乳腺癌患者中的 ESR1 突变。然而，需要进一步的广泛研究来证实其预后价值。
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