香港中文大学Y.M. Dennis Lo课题组取得一项新突破。他们的最新研究探明了血浆EB病毒DNA的片段组学分析和定量分析有助于预测鼻咽癌的未来。相关论文于2025年3月6日发表于国际顶尖学术期刊《癌细胞》杂志上。

本研究评估了血浆EB病毒（EBV） DNA片段组学分析在鼻咽癌（NPC）筛查中的临床应用。在接受两轮筛选的约20000名受试者的前瞻性队列中，课题组研究人员分析了通过聚合酶链反应（PCR）检测EBV DNA阳性的受试者的第一轮血液样本（n = 558）。研究人员发现，那些随后在第二轮发展为NPC的患者表现出独特的单核小体大小模式，NPC相关的末端基序（特别是cc基序的缺失）和甲基化异常，这些甲基化异常是通过基于片段组学的甲基化分析（FRAGMA）发现的。具有这些异常片段组学特征和较高EBV DNA数量的受试者，在第二轮发生鼻咽癌的相对风险是PCR检测EBV DNA阴性受试者的87.1倍。这些结果表明血浆DNA片段组学可以预测未来的癌症风险。

研究人员表示，血浆常染色体DNA片段组学分析在癌症诊断中显示出前景。

附：英文原文

Title: Fragmentomics profiling and quantification of plasma Epstein-Barr virus DNA enhance prediction of future nasopharyngeal carcinoma

Author: W.K. Jacky Lam, Guannan Kang, Charles M.L. Chan, Vicky C.T. Lee, Mary-Jane L. Ma, Qing Zhou, Peiyong Jiang, Irene O.L. Tse, Ann D. King, Kenneth C.W. Wong, Edwin P. Hui, Brigette B.Y. Ma, Anthony T.C. Chan, K.C. Allen Chan, Y.M. Dennis Lo

Issue&Volume: 2025-03-06

Abstract: Fragmentomics analysis of plasma autosomal DNA has shown promise in cancer diagnostics. Here we evaluated the clinical utility of plasma Epstein-Barr virus (EBV) DNA fragmentomics analysis for nasopharyngeal carcinoma (NPC) screening. Among our prospective cohort of approximately 20,000 subjects that underwent two rounds of screening, we analyzed the first-round blood samples of subjects who tested positive for EBV DNA via polymerase chain reaction (PCR) (n = 558). We found that those who subsequently developed NPC in the second round exhibited a distinctive mononucleosomal size pattern, an NPC-associated end motif (specifically, a depletion of CC-motif) and aberrations in methylation identified through fragmentomics-based methylation analysis (FRAGMA). Subjects with these aberrant fragmentomics features and higher quantity of EBV DNA had a relative risk of 87.1 times greater for developing NPC in the second round compared to subjects tested negative for EBV DNA on PCR. These results demonstrate plasma DNA fragmentomics could predict future cancer risk.

DOI: 10.1016/j.ccell.2025.02.002

Source: https://www.cell.com/cancer-cell/abstract/S1535-6108(25)00054-6