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.
Oncogene. 2025 Mar 17 [Epub ahead of print]
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
Faculty of Urology, Third Medical Center, Chinese PLA General Hospital, Beijing, China., Department of Urology Surgery, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China., Department of Urology, Henan Provincial People's Hospital, Zhengzhou, China., AnchorDx Medical Co., Ltd., Guangzhou, China., Faculty of Urology, Third Medical Center, Chinese PLA General Hospital, Beijing, China. ., AnchorDx Medical Co., Ltd., Guangzhou, China. ., AnchorDx Medical Co., Ltd., Guangzhou, China. ., Department of Urology, Henan Provincial People's Hospital, Zhengzhou, China. ., Department of Urology Surgery, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China. ., Faculty of Urology, Third Medical Center, Chinese PLA General Hospital, Beijing, China. ., Faculty of Urology, Third Medical Center, Chinese PLA General Hospital, Beijing, China. .
PubMed http://www.ncbi.nlm.nih.gov/pubmed/40097805