前性验证研究:一种基于循环瘤DNA的非侵入性试验,用于同时早期检测无症状成年人多种癌症
Luu Hong Dang Nguyen1, Thi Hue Hanh Nguyen1, Van Hoi Le2
1Medical Genetics Institute, Ho Chi Minh, Vietnam.
BMC medicine
|February 13, 2025
概括
这项研究验证了越南SPOT-MAS多种癌症早期检测测试. 该测试对早期癌症检测充满希望,特别是在查选择有限的地区.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 公共卫生 公共卫生
背景情况:
- 非侵入性多种癌症早期检测 (MCED) 测试对于改善癌症存活率至关重要.
- 在不同人群中MCED测试的临床实用性需要进一步验证以进行常规实施.
- SPOT-MAS (通过DNA甲基化和大小查瘤存在) 测试利用循环瘤DNA (ctDNA) 进行早期癌症检测.
研究的目的:
- 为了前性验证基于ctDNA的多式非侵入性MCED测试SPOT-MAS.的临床实用性.
- 评估SPOT-MAS在一个中低收入国家的现实环境中的表现.
主要方法:
- 在越南,一项多中心前性研究 (K-DETEK,NCT05227261) 对9057名40岁及以上的无症状个体进行.
- 参与者在测试后被跟踪了12个月.
- 标准护理 (SOC) 图像和活检用于确认恶性病变.
主要成果:
- 在9024名符合条件的参与者中,43人检测出ctDNA阳性,其中17人确诊患有恶性病变. 阳性预测值为39.53%,原产地组织准确率为52.94%.
- 在8981名参与者中,8974名参与者在12个月内被证实没有癌症,产生了99.92%的负预测值.
- 在SPOT-MAS测试中,总体灵敏度为70.83%,特异性为99.71%,用于检测各种癌症类型.
结论:
- 这一在中等收入较低的国家的前性验证表明了SPOT-MAS MCED测试在早期癌症检测方面的潜力.
- 像SPOT-MAS这样的MCED测试可以显著提高国家癌症查计划,特别是在资源有限的环境中.
- 进一步实施MCED测试可以改善全球癌症结果.
相关概念视频
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
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