Nakamura Kenichi
Rinsho Byori. 2016 May;64(4):400-406.
In cancer, companion diagnostics accompanied by molecular-targeted drugs have been developed and launched over the last decade, leading to marked improvements of patients' treatments and outcomes. Alt- hough most of them are tested using tissue samples, sometimes it is difficult to obtain a biopsy for some types of cancers because of the patient's risk and performance status. Recently, extensive clinical research regarding "Liquid Biopsy", such as circulating tumor DNA (ctDNA), has been performed. It is considered that "Liquid Biopsy" has the potential to overcome the issue of tissue-based molecular diagnostics. "BEAMing" is one of the digital PCR methods invented by Prof. Bert Vogelstein's group from Johns Hop- kins University. This technology enables highly sensitive detection, at 0.01% of ctDNA in plasma, which outperforms general PCR methods. Regarding BEAMing, extensive research on the clinical significance of ctDNA detection has been done, especially in three fields: response prediction, response/recurrence monitoring, and molecular-targeted drug resistance monitoring. In this article, I will discuss the possibility of BEAMing and ctDNA testing as future diagnostics.
在癌症领域，过去十年间已研发并推出了与分子靶向药物配套的伴随诊断方法，这使得患者的治疗和预后有了显著改善。尽管大多数此类诊断是通过组织样本进行检测的，但有时由于患者的风险和身体状况，对于某些类型的癌症来说，获取活检样本存在困难。最近，针对“液体活检”，如循环肿瘤DNA（ctDNA），开展了广泛的临床研究。人们认为“液体活检”有潜力克服基于组织的分子诊断所面临的问题。“BEAMing”是约翰·霍普金斯大学的伯特·沃格尔斯坦教授团队发明的数字PCR方法之一。这项技术能够实现高灵敏度检测，可检测出血浆中0.01%的ctDNA，其性能优于普通PCR方法。关于BEAMing，已经针对ctDNA检测的临床意义开展了广泛研究，尤其是在三个领域：疗效预测、疗效/复发监测以及分子靶向药物耐药性监测。在本文中，我将探讨BEAMing和ctDNA检测作为未来诊断方法的可能性。
