Varela Mar, Villatoro Sergi, Lorenzo Daniel, Piulats Josep Maria, Caminal Josep Maria
Department of Pathology, Hospital Universitari de Bellvitge, 08907 L'Hospitalet de Llobregat, Barcelona, Spain.
Laboratori Core d'Anàlisi Molecular, Hospital Universitari de Bellvitge-Institut Català d'Oncologia, 08907 L'Hospitalet de Llobregat, Barcelona, Spain.
Cancers (Basel). 2024 Sep 1;16(17):3053. doi: 10.3390/cancers16173053.
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(UM)是成人中最常见的原发性眼内恶性肿瘤。远处转移很常见,约50%的患者会受到影响。预后准确性依赖于肿瘤组织的分子特征。然而,在这些患者中,由于肿瘤体积小和/或近距离放疗后缩小,难以获取足够的组织进行分析,传统活检可能具有挑战性。另一种方法是液体活检,这是一种非侵入性技术,可实现对肿瘤动态的实时监测。液体活检在精准医学中发挥着越来越重要的作用,提供有关肿瘤分子特征和治疗反应的有价值信息。液体活检有助于早期检测,并可用于监测疾病进展和复发。基于循环肿瘤DNA(ctDNA)的检测因其易于整合到临床实践中而特别有前景。在本综述中,我们讨论了ctDNA在UM液体活检中的应用。更具体地说,我们探讨了该领域的新兴技术以及使用不同体液进行液体活检的优缺点。最后,我们讨论了该技术在常规临床应用中的当前障碍。