Lu Jun-Liang, Liang Zhi-Yong
Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Chronic Dis Transl Med. 2016 Dec 22;2(4):223-230. doi: 10.1016/j.cdtm.2016.12.001. eCollection 2016 Dec.
Cancer treatment has entered the era of precision medicine, where knowledge of a patient's genetic profile is used to facilitate early diagnosis, drug selection, prognosis, prediction of drug responsiveness, the onset of secondary resistance, and relapse. Circulating free DNA (cfDNA) has emerged as an ideal source of genetic information for cancer patients, and numerous studies have explored its validity in various clinical applications. However, clinical implementation of cfDNA-based tests has been slow. In this review, we addressed some of the pre- and post-analytical issues regarding cfDNA tests. First, we summarized the characteristics of cfDNA and reviewed the methods used to identify tumor-derived cfDNA from the pool of total cfDNA. Second, we described the procedures used to extract cfDNA, which have a great impact on representativeness and yield. Finally, we discussed our thoughts on the validation of cfDNA-based tests and the reporting of test results amid drastic limitations.
癌症治疗已进入精准医学时代,在此时代,患者的基因图谱知识被用于促进早期诊断、药物选择、预后评估、药物反应性预测、继发性耐药的发生以及复发情况。循环游离DNA(cfDNA)已成为癌症患者理想的遗传信息来源,众多研究已探索了其在各种临床应用中的有效性。然而,基于cfDNA的检测在临床中的应用进展缓慢。在本综述中,我们讨论了一些与cfDNA检测相关的分析前和分析后问题。首先,我们总结了cfDNA的特征,并回顾了从总cfDNA池中识别肿瘤来源cfDNA的方法。其次,我们描述了提取cfDNA的程序,这些程序对代表性和产量有很大影响。最后,我们讨论了在存在巨大局限性的情况下,对基于cfDNA检测的验证以及检测结果报告的看法。