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循环肿瘤DNA在上皮性卵巢癌患者中的临床价值

Clinical value of circulating tumor DNA for patients with epithelial ovarian cancer.

作者信息

Laude Émilie, Azaïs Henri, Ben Sassi Mehdi, Bats Anne-Sophie, Taly Valérie, Laurent-Puig Pierre

机构信息

AP-HP (Assistance Publique des Hôpitaux de Paris), Department of Gynecological Oncological and Breast Surgery, Hôpital Européen Georges-Pompidou, Paris, France; Université Paris Cité, Paris CARPEM Cancer Institute, Paris, France; INSERM UMR-S 1147, Université Paris Cité, Centre de Recherche des Cordeliers, Paris, France.

AP-HP (Assistance Publique des Hôpitaux de Paris), Department of Gynecological Oncological and Breast Surgery, Hôpital Européen Georges-Pompidou, Paris, France; Université Paris Cité, Paris CARPEM Cancer Institute, Paris, France; INSERM UMR-S 1147, Université Paris Cité, Centre de Recherche des Cordeliers, Paris, France.

出版信息

Int J Gynecol Cancer. 2025 May 10;35(7):101925. doi: 10.1016/j.ijgc.2025.101925.

DOI:10.1016/j.ijgc.2025.101925
PMID:40424838
Abstract

Despite progress in recent years, epithelial ovarian cancer remains a pathology with a poor prognosis, primarily because of late and invasive diagnosis. Conventional follow-up relies on imaging, CA125, and predictive tools such as KELIM-CA125 and the chemotherapy response score. However, these methods are non-specific and result in delays before obtaining results. Recently, many research teams have focused on liquid biopsies, which provide direct access to tumor material in biological fluids. This review examines the clinical potential of circulating tumor DNA (ctDNA) in epithelial ovarian cancer. A systematic search of the PubMed database was conducted. Inclusion criteria were studies published in English, original research articles, reviews, or meta-analyses focused on ctDNA and ovarian cancer. Exclusion criteria included non-peer-reviewed sources, articles with insufficient data, and studies not directly related to the topic. In epithelial ovarian cancer, ctDNA allows quantitative evaluation of tumor burden and qualitative analysis by detecting specific tumor DNA variations, such as epigenetic modifications or genetic mutations. Furthermore, its half-life is less than 2 hours, enabling dynamic monitoring of tumor evolution. This capability could facilitate earlier diagnosis, better screening, and more effective therapeutic follow-up. The qualitative approach also has the potential to predict chemoresistance. Technologies used to detect ctDNA in blood include quantitative polymerase chain reaction, digital polymerase chain reaction, and next-generation sequencing, which allow quantification and identification of DNA molecule modifications. CtDNA is a promising biomarker for epithelial ovarian cancer and could address several challenges in its management. However, further research is needed to establish its role in routine clinical practice, particularly, to identify a detection method that is highly sensitive, specific, and generalizable to a wide patient population.

摘要

尽管近年来取得了进展,但上皮性卵巢癌仍然是一种预后较差的病理类型,主要原因是诊断延迟且具有侵袭性。传统的随访依赖于影像学检查、CA125以及诸如KELIM-CA125和化疗反应评分等预测工具。然而,这些方法缺乏特异性,并且在获得结果之前会导致延迟。最近,许多研究团队专注于液体活检,它可以直接获取生物体液中的肿瘤物质。这篇综述探讨了循环肿瘤DNA(ctDNA)在上皮性卵巢癌中的临床潜力。我们对PubMed数据库进行了系统检索。纳入标准为以英文发表的研究、原创研究文章、综述或荟萃分析,其重点为ctDNA和卵巢癌。排除标准包括未经同行评审的来源、数据不足的文章以及与该主题无直接关联的研究。在上皮性卵巢癌中,ctDNA能够通过检测特定的肿瘤DNA变异(如表观遗传修饰或基因突变)对肿瘤负荷进行定量评估和定性分析。此外,其半衰期小于2小时,能够对肿瘤进展进行动态监测。这种能力有助于早期诊断、更好的筛查以及更有效的治疗随访。定性方法也有可能预测化疗耐药性。用于检测血液中ctDNA的技术包括定量聚合酶链反应、数字聚合酶链反应和下一代测序,这些技术能够对DNA分子修饰进行定量和鉴定。CtDNA是上皮性卵巢癌一个很有前景的生物标志物,并且可以应对其管理中的几个挑战。然而,需要进一步研究以确定其在常规临床实践中的作用,特别是要确定一种对广大患者群体具有高敏感性、特异性和通用性的检测方法。

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引用本文的文献

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J Exp Clin Cancer Res. 2025 Jun 12;44(1):174. doi: 10.1186/s13046-025-03433-4.