Fernandes Marques Joana, Pereira Reis Joana, Fernandes Gabriela, Hespanhol Venceslau, Machado José Carlos, Costa José Luís
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.
Acta Cytol. 2019;63(6):456-465. doi: 10.1159/000492917. Epub 2019 Mar 8.
Liquid biopsy was introduced to the oncology field with the promise of revolutionizing the management of cancer patients, minimizing the exposure to invasive procedures such as tissue biopsy, and providing reliable information regarding therapy response and detection of disease relapse. Despite the significant increase in the number of published studies on circulating tumor DNA (ctDNA) in the past years, the emphasis of most studies is on the development of new technologies or on the clinical utility of ctDNA. This leaves a clear gap of knowledge concerning the biology of ctDNA, such as the fundamental mechanisms through which DNA from tumor cells is released into the circulation. Moreover, considering that ctDNA analysis is now currently being applied in clinical practice, the need for rigorous quality control is arising, and with it the necessity to standardize procedures, from sample collection to data analysis. This review focuses on the main aspects of ctDNA, including approaches currently available to evaluate tumor genetics, as well as the points that still require improvement in order to make liquid biopsy a key player in precision medicine.
液体活检被引入肿瘤学领域，有望彻底改变癌症患者的管理方式，尽量减少组织活检等侵入性程序的暴露，并提供有关治疗反应和疾病复发检测的可靠信息。尽管在过去几年中，关于循环肿瘤DNA（ctDNA）的已发表研究数量显著增加，但大多数研究的重点是新技术的开发或ctDNA的临床应用。这在ctDNA生物学方面留下了明显的知识空白，例如肿瘤细胞中的DNA释放到循环中的基本机制。此外，鉴于ctDNA分析目前正在临床实践中应用，对严格质量控制的需求正在出现，随之而来的是从样本采集到数据分析的程序标准化的必要性。本综述重点关注ctDNA的主要方面，包括目前用于评估肿瘤遗传学的方法，以及为使液体活检成为精准医学的关键因素仍需改进的要点。
