Uveal melanoma (UM) is the most common primary malignant intraocular tumor in adults. Distant metastasis is common, affecting around 50% of patients. Prognostic accuracy relies on molecular characterization of tumor tissue. In these patients, however, conventional biopsy can be challenging due to the difficulty of obtaining sufficient tissue for the analysis due to the small tumor size and/or post-brachytherapy shrinkage. An alternative approach is liquid biopsy, a non-invasive technique that allows for real-time monitoring of tumor dynamics. Liquid biopsy plays an increasingly prominent role in precision medicine, providing valuable information on the molecular profile of the tumor and treatment response. Liquid biopsy can facilitate early detection and can be used to monitor progression and recurrence. ctDNA-based tests are particularly promising due to their ease of integration into clinical practice. In this review, we discuss the application of ctDNA in liquid biopsies for UM. More specifically, we explore the emerging technologies in this field and the advantages and disadvantages of using different bodily fluids for liquid biopsy. Finally, we discuss the current barriers to routine clinical use of this technique.
葡萄膜黑色素瘤是成人最常见的原发性眼内恶性肿瘤。其远处转移较为常见,约50%的患者会发生转移。预后判断的准确性依赖于肿瘤组织的分子特征分析。然而,由于肿瘤体积较小和/或近距离放疗后病灶萎缩,传统活检往往难以获取足够的组织样本进行分析。液体活检作为一种替代方案,是一种能够实时监测肿瘤动态的无创技术。该技术在精准医疗中发挥着日益重要的作用,可为肿瘤分子特征及治疗反应提供宝贵信息。液体活检有助于早期发现肿瘤,并可用于监测疾病进展和复发。基于循环肿瘤DNA的检测因其易于融入临床实践而展现出巨大潜力。本文综述了循环肿瘤DNA在葡萄膜黑色素瘤液体活检中的应用,重点探讨了该领域新兴技术及采用不同体液进行液体活检的优缺点,最后分析了该技术常规临床应用面临的主要障碍。