Levkova Mariya, Chervenkov Trifon, Angelova Lyudmila, Dzenkov Deyan
Department of Medical Genetics, Medical University Varna, Marin Drinov Str 55, Varna, 9000, Bulgaria.
Laboratory of Medical Genetics, St. Marina Hospital, Hristo Smirnenski Blv 1, Varna, 9000, Bulgaria.
Curr Genomics. 2023 Dec 28;24(6):337-344. doi: 10.2174/0113892029286632231127055733.
Advanced medical technologies are transforming the future of healthcare, in particular, the screening and detection of molecular-genetic changes in patients suspected of having a neoplasm. They are based on the assumption that neoplasms release small amounts of various neoplasm-specific molecules, such as tumor DNA, called circulating DNA (cirDNA), into the extracellular space and subsequently into the blood. The detection of tumor-specific molecules and specific molecular changes in body fluids in a noninvasive or minimally invasive approach is known as "liquid biopsy." The aim of this review is to summarize the current knowledge of the application of ONT for analyzing circulating DNA in the field of liquid biopsies among cancer patients. Databases were searched using the keywords "nanopore" and "liquid biopsy" and by applying strict inclusion criteria. This technique can be used for the detection of neoplastic disease, including metastases, guiding precision therapy, and monitoring its effects. There are many challenges, however, for the successful implementation of this technology into the clinical practice. The first one is the low amount of tumor-specific molecules in the body fluids. Secondly, a tumor molecular signature should be discriminated from benign conditions like clonal hematopoiesis of unknown significance. Oxford Nanopore Technology (ONT) is a third-generation sequencing technology that seems particularly promising to complete these tasks. It offers rapid sequencing thanks to its ability to detect changes in the density of the electric current passing through nanopores. Even though ONT still needs validation technology, it is a promising approach for early diagnosis, therapy guidance, and monitoring of different neoplasms based on analyzing the cirDNA.
先进的医疗技术正在改变医疗保健的未来,尤其是在对疑似患有肿瘤的患者进行分子遗传变化的筛查和检测方面。这些技术基于这样一种假设,即肿瘤会将少量各种肿瘤特异性分子,如肿瘤DNA,即所谓的循环DNA(cirDNA),释放到细胞外空间,随后进入血液。以非侵入性或微创方式检测体液中的肿瘤特异性分子和特定分子变化被称为“液体活检”。本综述的目的是总结牛津纳米孔技术(ONT)在癌症患者液体活检领域分析循环DNA应用的当前知识。使用关键词“纳米孔”和“液体活检”并应用严格的纳入标准对数据库进行了检索。该技术可用于肿瘤疾病的检测,包括转移灶的检测、指导精准治疗以及监测其效果。然而,要将这项技术成功应用于临床实践面临诸多挑战。第一个挑战是体液中肿瘤特异性分子的含量较低。其次,需要将肿瘤分子特征与意义未明的克隆性造血等良性情况区分开来。牛津纳米孔技术(ONT)是第三代测序技术,似乎特别有希望完成这些任务。由于其能够检测通过纳米孔的电流密度变化,它提供了快速测序。尽管ONT仍需要验证技术,但基于对cirDNA的分析,它是一种用于不同肿瘤早期诊断、治疗指导和监测的有前景的方法。