鼻咽癌（NPC）是起源于鼻咽上皮细胞的恶性肿瘤，与EB病毒（EBV）感染、饮食习惯、环境和遗传因素有关。这是东南亚的一种常见恶性肿瘤，尤其是男性的性别偏好。由于其非特异性症状，鼻咽癌常常在晚期才被诊断出来。因此，鼻咽癌的分子诊断在早期发现、治疗选择、疾病监测和预后预测中起着至关重要的作用。本综述旨在总结鼻咽癌的现状和最新出现的分子诊断技术，包括 EBV 相关生物标志物、基因突变、液体活检和 DNA 甲基化。将讨论鼻咽癌分子诊断的挑战和潜在的未来方向。版权所有 © 2024 作者。由 Elsevier B.V. 出版。保留所有权利。

Nasopharyngeal carcinoma (NPC) is a malignant tumor originated from the nasopharynx epithelial cells and has been linked with Epstein-Barr virus (EBV) infection, dietary habits, environmental and genetic factors. It is a common malignancy in Southeast Asia, especially with gender preference among men. Due to its non-specific symptoms, NPC is often diagnosed at a late stage. Thus, the molecular diagnosis of NPC plays a crucial role in early detection, treatment selection, disease monitoring, and prognosis prediction. This review aims to provide a summary of the current state and the latest emerging molecular diagnostic techniques for NPC, including EBV-related biomarkers, gene mutations, liquid biopsy, and DNA methylation. Challenges and potential future directions of NPC molecular diagnosis will be discussed.Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.