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重要作用。因此,对非侵入性技术的关注激增,包括循环无细胞DNA(ccfDNA)或无细胞DNA(cfDNA),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,探讨无细胞DNA检测ESR1突变在乳腺癌患者中的诊断准确性.
方法:PubMed,Embase,并在2022年4月6日之前搜索了WebofScience数据库。cfDNA对ESR1测量的诊断研究,这是用肿瘤组织活检证实的,已被纳入研究。敏感性,特异性,准确度,阳性预测值(PPV),负预测值(NPV),分析数据时考虑了正似然比(PLR)和负似然比(NLR).
结果:在649篇论文中,13篇论文和15个队列,包括389名参与者,进入荟萃分析。综合荟萃分析表明其敏感性较高(75.52,95%CI60.19-90.85),特异性(88.20,95%CI80.99-95.40),血浆ESR1的高精度为88.96(95%CI83.23-94.69)。我们还发现中等PPV为56.94(95%CI41.70-72.18),但高NPV为88.53(95%CI82.61-94.44)。我们还发现NLR为0.443(95%CI0.09-0.79),PLR为1.60(95%CI1.20-1.99)。
结论:本系统综述和综合荟萃分析显示,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。这表明该测试可能是有价值的诊断工具。它可以作为一种可靠的非侵入性技术来识别乳腺癌患者的ESR1突变。然而,需要更广泛的研究来证实其预后价值.
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).
CONCLUSIONS: 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.