Nasopharyngeal carcinoma (NPC) is highly prevalent in Southeast Asia, and an unfavorable outcome is usually attributed to advanced stage NPC. Current methods for the early diagnosis of NPC have limitations in clinical practice. The aim of this study was to investigate the diagnostic ability of Septin 9 methylation for NPC. A quantitative methylation-sensitive PCR (qMS-PCR) assay was developed to measure the methylation status and levels of Septin 9 in nasopharyngeal tissues and paired swabs from patients with NPC, chronic nasopharyngitis, and healthy donors. Methylated Septin 9 was detected in 92% (23/25) of NPC tissues and 25% (4/16) of nasopharyngitis controls (). High-frequency hypermethylation with decreased mRNA expression of Septin 9 in NPC was also identified. Further, Septin 9 methylation was identified in 90.5% (19/21) of NPC biopsies and 71.4% (15/21) of paired swabs, indicating a good concordance between the two sample types. In addition, methylated Septin 9 was found in 16 (72.7%) nasal swabs from 22 NPC patients, 2 of 19 (10.5%) nasopharyngitis, but not in any of the healthy controls (). The methylation score in nasal swabs of the NPC group was also significantly higher than that of non-NPC controls (). Moreover, receiver operating characteristic (ROC) curve analysis showed an area under the curve (AUC) of 0.882 of Septin 9 methylation tests to discriminate NPC from non-NPC subjects. Our study demonstrated that frequent methylation of Septin 9 was present in NPC. Its detection in nasopharyngeal swabs may provide a minimally invasive and informative method for identifying early NPC cases.

中文翻译：

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鼻咽拭子中的Septin 9甲基化：鼻咽癌早期检测的潜在微创生物标志物。

鼻咽癌（NPC）在东南亚非常普遍，不良结局通常归因于晚期NPC。当前的NPC早期诊断方法在临床实践中存在局限性。这项研究的目的是调查Septin 9甲基化对NPC的诊断能力。开发了一种定量甲基化敏感性PCR（qMS-PCR）测定法，以测量鼻咽癌组织和成对的NPC，慢性鼻咽炎和健康供体患者的成对拭子中Septin 9的甲基化状态和水平。在92％（23/25）的NPC组织和25％（4/16）的鼻咽炎对照中检出了甲基化的Septin 9（）。还确定了NPC中Septin 9 mRNA表达降低的高频高甲基化。此外，在90.5％（19/21）的NPC活检组织和71.4％（15/21）的成对拭子中鉴定出Septin 9甲基化，表明这两种样品类型之间具有良好的一致性。此外，在22名NPC患者的16例（72.7％）鼻拭子，19例（10.5％）的鼻咽炎中有2例发现了甲基化的Septin 9，但在任何健康对照组中均未发现（）。NPC组鼻拭子的甲基化评分也显着高于非NPC对照（）。此外，接受者工作特征（ROC）曲线分析显示Septin 9甲基化测试的曲线下面积（AUC）为0.882，以区分NPC与非NPC受试者。我们的研究表明，鼻咽癌中存在Septin 9的频繁甲基化。它在鼻咽拭子中的检测可能为鉴别早期NPC病例提供了一种微创和信息丰富的方法。