A urine DNA methylation assay for early detection of renal cancer

IF 7.3 1区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Oncogene Pub Date : 2025-03-17 DOI:10.1038/s41388-024-03268-x

Tongshuai Shi, Hanzhong Chen, Zhifeng Wang, Hong Wang, Cheng Peng, Shang Huang, Ying Wen, Xiaoyong Pu, Zhixin Liang, Jianmei Zhong, Lingdian Wang, Xiaoxin Liang, Wei Wei, Teng Li, Jiaxin Chen, Zhiwei Chen, Xin Ma, Weimei Ruan, Jian-Bing Fan, Degang Ding, Jiumin Liu, Xu Zhang, Qingbo Huang

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Abstract

Renal cancer (RC) is the most lethal urological malignancy with 30% late diagnosis. Over 50% RCs are asymptomatic and discovered incidentally. Current RC detection relies on imaging while it lacks satisfactory sensitivity for detecting small-size tumors. A sensitive and robust diagnostic tool is needed to facilitate standardized RC early detection. Herein, we performed genome-wide methylation sequencing on both tissues and urine samples for RC DNA methylation makers discovery and developed a PCR-based RC early detector (RED) using a cohort of 93 RC and 35 non-RC urine samples. RED further achieved sensitivities of 82.2% and 80.7%, and specificities of 77.1% and 75% in a testing cohort (90 RC vs. 35 non-RC) and a validation cohort (119 RC vs. 48 non-RC), respectively. Importantly, RED exhibited 89.5% sensitivity for tumors in diameter <2 cm. It can detect 83.6% clear cell renal cell carcinoma, 75.0% of translocational renal cell carcinoma, 100% of primitive neuroectodermal tumors, renal malignant masenchymomas and mucinous tubular and spindle cell carcinoma. RED showed promising performance for RC detection with early stage and small size and have potential to be used in conjunction with imaging.

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尿DNA甲基化试验在肾癌早期检测中的应用。

肾癌（RC）是最致命的泌尿系统恶性肿瘤，晚期诊断率为30%。超过50%的RCs是无症状的，是偶然发现的。目前的RC检测依赖于影像学，对小肿瘤的检测灵敏度不高。需要一种灵敏而可靠的诊断工具来促进标准化的RC早期检测。在此，我们对组织和尿液样本进行了全基因组甲基化测序，以发现RC DNA甲基化制造者，并使用93例RC和35例非RC尿液样本开发了基于pcr的RC早期检测器（RED）。在测试队列（90例RC vs 35例非RC）和验证队列（119例RC vs 48例非RC）中，RED的灵敏度分别为82.2%和80.7%，特异性分别为77.1%和75%。重要的是，RED对肿瘤直径的敏感性为89.5%

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来源期刊

Oncogene 医学-生化与分子生物学

CiteScore

15.30

自引率

1.20%

发文量

404

审稿时长

1 months

期刊介绍： Oncogene is dedicated to advancing our understanding of cancer processes through the publication of exceptional research. The journal seeks to disseminate work that challenges conventional theories and contributes to establishing new paradigms in the etio-pathogenesis, diagnosis, treatment, or prevention of cancers. Emphasis is placed on research shedding light on processes driving metastatic spread and providing crucial insights into cancer biology beyond existing knowledge. Areas covered include the cellular and molecular biology of cancer, resistance to cancer therapies, and the development of improved approaches to enhance survival. Oncogene spans the spectrum of cancer biology, from fundamental and theoretical work to translational, applied, and clinical research, including early and late Phase clinical trials, particularly those with biologic and translational endpoints.