Clinomics Europe Ltd., Budapest, Hungary; Semmelweis University, Károly Rácz Doctoral School of Clinical Medicine, Budapest, Hungary.
Clinomics Inc. UNIST, Ulsan, 44916, Republic of Korea.
Mol Cell Probes. 2022 Dec;66:101871. doi: 10.1016/j.mcp.2022.101871. Epub 2022 Oct 23.
Ovarian cancer is the deadliest gynecological cancer. 70% of the cases are diagnosed at late stages with already developed metastases due to the absence of easily noticeable symptoms. Early-stage ovarian cancer has a good prognosis with a 5-year survival rate reaching 95%, hence the identification of effective biomarkers for early diagnosis is important. Advances in liquid biopsy-based methods can have a significant impact not just on the development of an efficient screening strategy, but also in clinical decision-making with additional molecular profiling and genetic alterations linked to therapy resistance. Despite the well-known advantages of liquid biopsy, there are still challenges that need to be addressed before its routine use in clinical practice. Various liquid biopsy-based biomarkers have been investigated in ovarian cancer; however, in this review, we are concentrating on the current use of cell-free DNA (cfDNA) and circulating tumor cells (CTCs) in disease management, focusing on their emerging importance in clinical practice. We also discuss the technical aspects of these workflows. The analysis of cfDNA is often chosen for the detection of mutations, copy number aberrations, and DNA methylation changes, whereas CTC analysis provides a unique opportunity to study whole cells, thus allowing DNA, RNA, and protein-based molecular profiling as well as in vivo studies. Combined solutions which merge the strengths of cfDNA and CTC approaches should be developed to maximize the potential of liquid biopsy technology.
卵巢癌是致死率最高的妇科癌症。由于缺乏明显症状，70%的病例在晚期被诊断出，此时已经发生转移。早期卵巢癌预后良好，5 年生存率可达 95%，因此寻找有效的生物标志物进行早期诊断十分重要。基于液体活检的方法的进步不仅对开发有效的筛查策略具有重要意义，而且对基于附加分子谱分析和与治疗耐药性相关的遗传改变的临床决策也具有重要意义。尽管液体活检有许多众所周知的优势，但在其常规临床应用之前，仍有一些挑战需要解决。目前已经研究了多种基于液体活检的生物标志物在卵巢癌中的应用；然而，在这篇综述中，我们集中讨论游离 DNA（cfDNA）和循环肿瘤细胞（CTC）在疾病管理中的当前应用，重点介绍它们在临床实践中的新兴重要性。我们还讨论了这些工作流程的技术方面。cfDNA 分析常用于检测突变、拷贝数异常和 DNA 甲基化变化，而 CTC 分析为研究整个细胞提供了独特的机会，从而允许进行基于 DNA、RNA 和蛋白质的分子谱分析以及体内研究。应开发结合 cfDNA 和 CTC 方法优势的联合解决方案，以最大限度地发挥液体活检技术的潜力。
