Peng Cheng, Zhao Guodong, Pei Bing, Wang Kai, Li Hui, Fei Sujuan, Song Lishuang, Wang Chunkai, Xiong Shangmin, Xue Ying, He Qibin, Zheng Minxue
Department of Gastroenterology, The Affiliated Jiangning Hospital of Nanjing Medical University, Nanjing 211100, China.
Zhejiang University Kunshan Biotechnology Laboratory, Zhejiang University Kunshan Innovation Institute, Kunshan 215300, China.
Cancers (Basel). 2022 Oct 27;14(21):5282. doi: 10.3390/cancers14215282.
Upper gastrointestinal cancer (UGC) is an important cause of cancer death in China, with low five-year survival rates due to the majority of UGC patients being diagnosed at an advanced stage. Therefore, there is an urgent need to develop cost-effective, reliable and non-invasive methods for the early detection of UGC.
A novel plasma-based methylation panel combining simultaneous detection of three methylated biomarkers (, and ) and an internal control gene were developed and used to examine plasma samples from 186 UGC patients and 190 control subjects.
The results indicated excellent PCR amplification efficiency and reproducibility of , and in the range of 10-100,000 copies per PCR reaction of fully methylated genomic DNA. The methylation levels of , and were significantly higher in UGC samples than those in control subjects. The sensitivities of , and alone for UGC detection were 32.3%, 61.3% and 30.6%, respectively; when three markers were combined, the sensitivity was improved to 71.0%, with a specificity of 90.0%, and the area under the curve (AUC) was 0.870 (95% CI: 0.832-0.902).
Methylated , and were specific for UGC and the three-methylated gene panel provided an alternative non-invasive choice for UGC early detection.
上消化道癌（UGC）是中国癌症死亡的重要原因，由于大多数UGC患者在晚期才被诊断出来，其五年生存率较低。因此，迫切需要开发出具有成本效益、可靠且非侵入性的UGC早期检测方法。
开发了一种基于血浆的新型甲基化检测组合，该组合同时检测三种甲基化生物标志物（、和）以及一个内参基因，并用于检测186例UGC患者和190例对照受试者的血浆样本。
结果表明，在每PCR反应10 - 100,000拷贝的完全甲基化基因组DNA范围内，、和具有出色的PCR扩增效率和重现性。UGC样本中、和的甲基化水平显著高于对照受试者。单独检测时，、和对UGC检测的灵敏度分别为32.3%、61.3%和30.6%；当三种标志物联合使用时，灵敏度提高到71.0%，特异性为90.0%，曲线下面积（AUC）为0.870（95% CI：0.832 - 0.902）。
甲基化的、和对UGC具有特异性，三甲基化基因检测组合为UGC早期检测提供了一种非侵入性的替代选择。
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