Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR.
Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR.
J Pathol. 2019 Apr;247(5):641-649. doi: 10.1002/path.5249. Epub 2019 Feb 25.
Analysis of circulating tumour DNA (ctDNA), as one type of 'liquid biopsy', has recently attracted great attention. Researchers are exploring many potential applications of liquid biopsy in many different types of cancer. In particular, it is of biological interest and clinical relevance to study the molecular characteristics of ctDNA. For such purposes, plasma Epstein-Barr virus (EBV) DNA from patients with nasopharyngeal carcinoma (NPC) would provide a good model to understand the biological properties and clinical applications of ctDNA in general. The strong association between EBV and NPC in endemic regions has made plasma EBV DNA a robust biomarker for this cancer. There are many clinical utilities of plasma EBV DNA analysis in NPC diagnostics. Its role in prognostication and surveillance of recurrence is well established. Plasma EBV DNA has also been validated for screening NPC in a recent large-scale prospective study. Indeed, plasma EBV DNA could be regarded as an archetypal ctDNA marker. In this review, we discuss the biological properties of plasma EBV DNA from NPC samples and also the clinical applications of plasma EBV DNA analysis in the management of NPC. Of note, the recently reported size analysis of plasma EBV DNA in patients with NPC has highlighted size as an important analytical parameter of ctDNA and demonstrated clinical value in improving the diagnostic performance of an EBV DNA-based NPC screening test. Such insights into ctDNA analysis (including size profiling) may help its full potential in cancer diagnostics for other types of cancer to be realised. © 2019 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.
循环肿瘤 DNA（ctDNA）分析作为一种“液体活检”，最近引起了广泛关注。研究人员正在探索液体活检在多种不同类型癌症中的许多潜在应用。特别是，研究 ctDNA 的分子特征具有生物学意义和临床相关性。为此，来自鼻咽癌（NPC）患者的血浆 Epstein-Barr 病毒（EBV）DNA 将为了解 ctDNA 的一般生物学特性和临床应用提供一个很好的模型。在流行地区，EBV 与 NPC 之间的强烈关联使得血浆 EBV DNA 成为该癌症的强大生物标志物。血浆 EBV DNA 分析在 NPC 诊断中有许多临床用途。其在预后和复发监测中的作用已得到充分证实。血浆 EBV DNA 也已在最近的一项大型前瞻性研究中得到 NPC 筛查的验证。事实上，血浆 EBV DNA 可以被视为典型的 ctDNA 标志物。在这篇综述中，我们讨论了来自 NPC 样本的血浆 EBV DNA 的生物学特性，以及血浆 EBV DNA 分析在 NPC 管理中的临床应用。值得注意的是，最近报道的 NPC 患者血浆 EBV DNA 的大小分析强调了大小作为 ctDNA 的一个重要分析参数，并证明了在提高基于 EBV DNA 的 NPC 筛查试验的诊断性能方面具有临床价值。对 ctDNA 分析（包括大小分析）的这些了解可能有助于实现其在其他类型癌症癌症诊断中的全部潜力。© 2019 作者。《病理学杂志》由 John Wiley & Sons Ltd 代表英国和爱尔兰病理学学会出版。
