Imai Mitsuho, Nakamura Yoshiaki, Yoshino Takayuki
Translational Research Support Section, National Cancer Center Hospital East, Chiba, Japan.
Department of Genetic Medicine and Services, National Cancer Center Hospital East, Chiba, Japan.
Int J Clin Oncol. 2025 Feb;30(2):180-193. doi: 10.1007/s10147-025-02694-5. Epub 2025 Jan 12.
Early cancer detection substantially improves the rate of patient survival; however, conventional screening methods are directed at single anatomical sites and focus primarily on a limited number of cancers, such as gastric, colorectal, lung, breast, and cervical cancer. Additionally, several cancers are inadequately screened, hindering early detection of 45.5% cases. In contrast, Multi-Cancer Early Detection (MCED) assays offer simultaneous screening of multiple cancers from a single liquid biopsy and identify molecular changes before symptom onset. These tests assess DNA mutations, abnormal DNA methylation patterns, fragmented DNA, and other tumor-derived biomarkers, indicating the presence of cancer and predicting its origin. Moreover, MCED assays concurrently detect multiple cancers without recommended screening protocols, potentially revolutionizing cancer screening and management. Large trials have reported promising results, achieving 50-95% sensitivity and 89-99% specificity for multiple cancer types. However, challenges, regarding improving accuracy, addressing ethical issues (e.g., psychosocial impact assessment), and integrating MCED into healthcare systems, must be addressed to achieve widespread adoption. Furthermore, prospective multi-institutional studies are crucial for demonstrating the clinical benefits in diverse populations. This review provides an overview of the principles, development status, and clinical significance of MCED tests, and discusses their potential and challenges.
早期癌症检测可显著提高患者生存率;然而,传统筛查方法针对单一解剖部位,主要聚焦于少数几种癌症,如胃癌、结直肠癌、肺癌、乳腺癌和宫颈癌。此外,几种癌症的筛查并不充分,阻碍了45.5%的病例的早期发现。相比之下,多癌早期检测(MCED)检测可通过一次液体活检同时筛查多种癌症,并在症状出现前识别分子变化。这些检测评估DNA突变、异常的DNA甲基化模式、破碎的DNA以及其他肿瘤衍生的生物标志物,以指示癌症的存在并预测其起源。此外,MCED检测无需推荐的筛查方案即可同时检测多种癌症,这可能会彻底改变癌症筛查和管理方式。大型试验已报告了有前景的结果,对多种癌症类型的检测灵敏度达到50-95%,特异性达到89-99%。然而,要实现广泛应用,必须解决提高准确性、解决伦理问题(如心理社会影响评估)以及将MCED纳入医疗保健系统等挑战。此外,前瞻性多机构研究对于证明在不同人群中的临床益处至关重要。本综述概述了MCED检测的原理、发展现状和临床意义,并讨论了其潜力和挑战。