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妇科癌症中的液体活检:从分子洞察到精准肿瘤学及临床实践的转化框架

Liquid biopsy in gynecological cancers: a translational framework from molecular insights to precision oncology and clinical practice.

作者信息

Martinelli Canio, Ercoli Alfredo, Vizzielli Giuseppe, Burk Sharon Raffaella, Cuomo Maria, Satasiya Vrunda, Kacem Housem, Braccia Simone, Mazzarotti Giulio, Miriello Irene, Tchamou Manuela Nana, Restaino Stefano, Arcieri Martina, Poli Alice, Tius Veronica, Parisi Silvana, Pergolizzi Stefano, Iatì Giuseppe, Nibali Chiara Conti, Pizzimenti Cristina, Pepe Ludovica, Ieni Antonio, Cortellino Salvatore, Giordano Antonio

机构信息

Sbarro Institute for Cancer Research and Molecular Medicine and Center of Biotechnology, College of Science and Technology, Temple University, 1900 N 12 St, Philadelphia, PA, 19122, USA.

Department of Human Pathology of Adult and Childhood "Gaetano Barresi", Unit of Obstetrics and Gynecology, University of Messina, Via Consolare Valeria 1, Messina, 98124, Italy.

出版信息

J Exp Clin Cancer Res. 2025 May 8;44(1):140. doi: 10.1186/s13046-025-03371-1.

Abstract

Liquid biopsy offers a noninvasive method to identify and monitor tumor-derived biomarkers, including circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), exosomes, microRNAs, and tumor-educated platelets, that provide real-time insights into the biological behavior of gynecological cancers. The detection of these markers has the potential to revolutionize cancer management by enabling earlier detection, providing novel data to personalize treatments, and predicting disease recurrence before clinical imaging and predicting disease recurrence before clinical imaging can confirm progression, thereby also guiding complex clinical decision-making. However, because this new "omics" layer introduces additional complexity, it must be fully understood, from its biological rationale to technical development and clinical integration, to prevent confusion or misapplication. That is why, focusing on 14 critical fields of inquiry, our goal is to map the current state of liquid biopsy from bench to bedside while highlighting practical considerations for clinical integration. Each topic integrates recent advances in assay sensitivity, biomarker variability, and data interpretation, underscoring how standardized protocols and robust analytical methods are pivotal for reliable results. We then translate these findings into disease-specific insights, examining how liquid biopsy could refine early detection, minimal residual disease assessment, and therapy guidance in endometrial, cervical, and ovarian cancers. Although several FDA-approved assays and promising commercial tests illustrate the field's rapid evolution, many translational hurdles remain, including the need for harmonized protocols, larger prospective clinical trials, and cost-effectiveness analyses. Crucially, our synthesis clarifies the pivotal role of interdisciplinary collaboration. Oncologists, laboratory scientists, and industry partners must align on standardized procedures and clinically relevant endpoints. Without such coordination, promising biomarkers may remain confined to research settings, limiting their practical benefit. Taken together, our review offers a translational view designed to contextualize liquid biopsy in gynecological oncology.

摘要

液体活检提供了一种非侵入性方法来识别和监测肿瘤衍生生物标志物,包括循环肿瘤DNA(ctDNA)、循环肿瘤细胞(CTC)、外泌体、微小RNA和肿瘤诱导血小板,这些生物标志物能够实时洞察妇科癌症的生物学行为。检测这些标志物有可能彻底改变癌症管理模式,实现更早的检测,提供个性化治疗的新数据,并在临床成像确认疾病进展之前预测疾病复发,从而也能指导复杂的临床决策。然而,由于这个新的“组学”层面带来了额外的复杂性,必须从其生物学原理到技术开发和临床整合进行全面理解,以防止混淆或误用。正因如此,我们聚焦于14个关键研究领域,旨在描绘液体活检从实验室到临床应用的现状,同时强调临床整合的实际考量。每个主题都整合了检测灵敏度、生物标志物变异性和数据解读方面的最新进展,强调了标准化方案和稳健分析方法对于获得可靠结果的关键作用。然后,我们将这些发现转化为针对特定疾病的见解,探讨液体活检如何优化子宫内膜癌、宫颈癌和卵巢癌的早期检测、微小残留病评估及治疗指导。尽管美国食品药品监督管理局(FDA)批准了几种检测方法,还有一些很有前景的商业检测,这表明该领域发展迅速,但仍存在许多转化障碍,包括需要统一的方案、更大规模的前瞻性临床试验以及成本效益分析。至关重要的是,我们的综述阐明了跨学科合作的关键作用。肿瘤学家、实验室科学家和行业合作伙伴必须在标准化程序和临床相关终点上达成一致。没有这种协调,有前景的生物标志物可能仍局限于研究环境中,限制了它们的实际效用。总体而言,我们的综述提供了一种转化视角,旨在将液体活检置于妇科肿瘤学的背景中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1d5/12060497/426326ffe91b/13046_2025_3371_Fig1_HTML.jpg

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