液体活检与眼部肿瘤：综述

Liquid Biopsy and Ocular Tumors: A Review.

作者信息

Chaaya Celine, Sarkis Andrea, El Haddad Georges, Diab Ernest, Schakal Alexandre

机构信息

Department of Ophthalmology, University of Saint Joseph, Beirut, Lebanon.

Department of Hematology and Oncology, University of Saint Joseph, Beirut, Lebanon.

出版信息

J Curr Ophthalmol. 2025 Sep 18;36(4):348-354. doi: 10.4103/joco.joco_88_24. eCollection 2024 Oct-Dec.

DOI:10.4103/joco.joco_88_24

PMID:41041030

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12487790/

Abstract

PURPOSE

To explore the various applications of liquid biopsy (LB) in ophthalmology and provide a comprehensive discussion on its utility in the field.

METHODS

A thorough exploration of the literature was conducted, and a total of 47 articles were included.

RESULTS

In RB, where conventional tumor biopsies carry risks of spreading the tumor beyond the eye, LB, particularly from the aqueous humor, emerges as a promising alternative. It provides a secure means of detecting cfDNA. In addition, LB is effective in uveal melanoma, particularly through digital droplet PCR, in mutation detection and predicting disease progression. Moreover, vitreous LB proves highly effective in diagnosing vitreoretinal lymphoma, exhibiting greater sensitivity than traditional cytopathological methods. This noninvasive approach not only enhances diagnostic accuracy but also holds potential for guiding biologically targeted therapies, showcasing the ongoing advancements in LB technology poised to redefine and revolutionize the field.

CONCLUSION

These findings offer valuable insights for personalized treatment strategies in ocular malignancies.

摘要

目的

探讨液体活检（LB）在眼科的各种应用，并对其在该领域的效用进行全面讨论。

方法

对文献进行了全面检索，共纳入47篇文章。

结果

在视网膜母细胞瘤（RB）中，传统肿瘤活检存在将肿瘤扩散至眼外的风险，而液体活检，尤其是来自房水的液体活检，成为一种有前景的替代方法。它提供了一种检测游离DNA（cfDNA）的安全手段。此外，液体活检在葡萄膜黑色素瘤中有效，特别是通过数字液滴PCR进行突变检测和预测疾病进展。此外，玻璃体液体活检在诊断玻璃体视网膜淋巴瘤方面被证明非常有效，比传统细胞病理学方法具有更高的敏感性。这种非侵入性方法不仅提高了诊断准确性，还具有指导生物靶向治疗的潜力，展示了液体活检技术的不断进步，有望重新定义和彻底改变该领域。