Blood-Based Cell-Free DNA in Ophthalmic Oncology.

IF 2.6 3区医学 Q2 OPHTHALMOLOGY

Translational Vision Science & Technology Pub Date : 2025-10-01 DOI:10.1167/tvst.14.10.7

Jasmine H Francis, David H Abramson

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引用次数: 0

Abstract

Purpose: Cell-free DNA (cfDNA) has emerged as a useful liquid biopsy biomarker with many translational applications in oncology. Here, we review the uses of blood-based cfDNA in ophthalmic oncology, with a focus on uveal melanoma, retinoblastoma, conjunctival tumors, choroidal metastases, indeterminate choroidal lesions, and ocular histiocytosis.

Methods: A systematic literature search in MEDLINE, PubMed, Web of Science, and Scopus from October 2017 to June 2025 was performed. Data extraction included tumor diagnosis, number of patients in the cohort, characteristics of the blood-based cfDNA assay employed (including technology used for mutation identification), number and types of genes analyzed, performance metrics for the assay, and any clinical impact.

Results: The use of blood-based cfDNA in the field of ophthalmic oncology has been studied to varying degrees. Perhaps its most well-researched area is uveal melanoma, in which applications for both primary and metastatic uveal melanoma continue to be evaluated. Its use in retinoblastoma has been investigated by a small number of groups. There is minimal but intriguing work on the use of blood-based cfDNA in for conjunctival tumors, choroidal metastases, tumors of indeterminate origin, and ocular histiocytosis.

Conclusions: cfDNA science bridges the gap between basic research and clinical care. Within the field of ophthalmic oncology, cfDNA may be useful as a diagnostic/prognostic tool, for surveillance of metastatic or minimally residual disease, to identify driver mutations for treatment selection, as a biomarker of treatment response, for screening for recurrent or new cancer, and to detect new molecule clones.

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基于血液的无细胞DNA在眼科肿瘤中的应用。

目的：游离DNA （cfDNA）已成为一种有用的液体活检生物标志物，在肿瘤学中有许多转化应用。在这里，我们回顾了血液cfDNA在眼科肿瘤学中的应用，重点是葡萄膜黑色素瘤、视网膜母细胞瘤、结膜肿瘤、脉络膜转移、不确定脉络膜病变和眼组织细胞增多症。方法：系统检索2017年10月~ 2025年6月MEDLINE、PubMed、Web of Science、Scopus等数据库的文献。数据提取包括肿瘤诊断、队列中的患者数量、所采用的基于血液的cfDNA检测的特征（包括用于突变鉴定的技术）、所分析基因的数量和类型、检测的性能指标以及任何临床影响。结果：基于血液的cfDNA在眼科肿瘤领域的应用已有不同程度的研究。也许其研究最充分的领域是葡萄膜黑色素瘤，其中原发和转移性葡萄膜黑色素瘤的应用仍在继续评估。它在视网膜母细胞瘤中的应用已经被少数研究小组研究过。在结膜肿瘤、脉络膜转移、来源不明的肿瘤和眼组织细胞增多症中使用血源性cfDNA的研究很少，但很有趣。结论：cfDNA科学在基础研究和临床护理之间架起了桥梁。在眼科肿瘤学领域，cfDNA可作为一种诊断/预后工具，用于监测转移性或最小残留疾病，识别驱动突变以进行治疗选择，作为治疗反应的生物标志物，用于筛查复发或新发癌症，以及检测新的分子克隆。

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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来源期刊

Translational Vision Science & Technology Engineering-Biomedical Engineering

CiteScore

5.70

自引率

3.30%

发文量

346

审稿时长

25 weeks

期刊介绍： Translational Vision Science & Technology (TVST), an official journal of the Association for Research in Vision and Ophthalmology (ARVO), an international organization whose purpose is to advance research worldwide into understanding the visual system and preventing, treating and curing its disorders, is an online, open access, peer-reviewed journal emphasizing multidisciplinary research that bridges the gap between basic research and clinical care. A highly qualified and diverse group of Associate Editors and Editorial Board Members is led by Editor-in-Chief Marco Zarbin, MD, PhD, FARVO. The journal covers a broad spectrum of work, including but not limited to: Applications of stem cell technology for regenerative medicine, Development of new animal models of human diseases, Tissue bioengineering, Chemical engineering to improve virus-based gene delivery, Nanotechnology for drug delivery, Design and synthesis of artificial extracellular matrices, Development of a true microsurgical operating environment, Refining data analysis algorithms to improve in vivo imaging technology, Results of Phase 1 clinical trials, Reverse translational ("bedside to bench") research. TVST seeks manuscripts from scientists and clinicians with diverse backgrounds ranging from basic chemistry to ophthalmic surgery that will advance or change the way we understand and/or treat vision-threatening diseases. TVST encourages the use of color, multimedia, hyperlinks, program code and other digital enhancements.