[The concept of the liquid biopsy in the treatment of malignant eye tumours].

Sarah E Coupland, Svenja R Sonntag, Heinrich Heimann, Salvatore Grisanti
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Abstract

The liquid biopsy is a cutting-edge technique that involves analysing non-solid biological tissues, primarily blood but also ocular fluids, for the presence of cancer cells or fragments of tumour DNA. Unlike traditional biopsies, liquid biopsies are usually minimally invasive and can be performed more frequently, enabling continuous monitoring of disease progression and treatment efficacy. This article (and the associated series of articles) outlines the key developments in liquid biopsy, which include the analysis of circulating tumor DNA (ctDNA), circulating tumor cells (CTC) and exosomal RNA and protein biomarkers. Techniques, such as digital droplet PCR and next-generation sequencing (NGS) have made it possible to detect even very low levels of ctDNA, which is crucial for early cancer detection and monitoring minimal residual disease. The detection of rare CTCs is enhanced by techniques, such as microfluidic devices and immunomagnetic separation. Multiomic approaches, whereby exosomal RNA, protein and ctDNA analyses are combined, help to create a more comprehensive picture of tumour biology, including insights into tumour heterogeneity, potentially leading to better diagnostic and prognostic tools and helping to predict treatment response and resistance. The challenges of liquid biopsy application, which will be described in the following article, include (a) standardization, (b) cost and accessibility, (c) validation and clinical utility. However, the liquid biopsy represents a promising frontier in the application of precision ocular oncology, with ongoing research likely to expand its applications and improve its effectiveness in the coming years.

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[眼部恶性肿瘤治疗中的液体活检概念]。
液体活检是一种前沿技术,涉及分析非固体生物组织(主要是血液,也包括眼液)中是否存在癌细胞或肿瘤 DNA 片段。与传统活检不同,液体活检通常是微创的,而且可以更频繁地进行,从而能够持续监测疾病进展和治疗效果。本文(及相关系列文章)概述了液体活检的主要发展,包括循环肿瘤DNA(ctDNA)、循环肿瘤细胞(CTC)以及外泌体RNA和蛋白质生物标记物的分析。数字液滴 PCR 和下一代测序 (NGS) 等技术使得检测极低水平的 ctDNA 成为可能,这对早期癌症检测和监测极小残留病至关重要。微流控装置和免疫磁分离等技术增强了对罕见 CTC 的检测。多组学方法将外泌体RNA、蛋白质和ctDNA分析结合在一起,有助于更全面地了解肿瘤生物学,包括对肿瘤异质性的深入了解,从而有可能开发出更好的诊断和预后工具,并有助于预测治疗反应和耐药性。下文将介绍液体活检应用所面临的挑战,包括:(a) 标准化;(b) 成本和可及性;(c) 验证和临床实用性。不过,液体活检代表了精准眼部肿瘤学应用的一个前景广阔的前沿领域,正在进行的研究可能会在未来几年扩大其应用范围并提高其有效性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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[Circulating tumor cells in uveal melanoma : "The needle in the haystack"]. [Electrophysiology in ophthalmology]. [EyeMatics-Multicenter data evaluation of real-world data with interoperable medical informatics]. [Liquid biopsy in retinoblastomas]. Erratum zu: Digitale Telemedizin zur Überwachung chronischer Netzhauterkrankungen – ein klinisches Werkzeug für die Zukunft?
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