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一种无细胞游离 DNA 结直肠癌筛查检测方法,有望提高可及性和早期检测率。

A cell-free DNA colorectal cancer screening test promising enhanced accessibility and early detection.

机构信息

Rehman Medical College (MBBS), Peshawar, Pakistan.

Liaquat University of Medical & Health Sciences (MBBS), Jamshoro, Pakistan.

出版信息

Int J Colorectal Dis. 2024 Oct 15;39(1):162. doi: 10.1007/s00384-024-04706-8.

Abstract

Colorectal cancer (CRC) remains a significant global health challenge, with approximately 1.9 million new cases and 930,000 deaths reported in 2020. The highest incidence rates are observed in Australia/New Zealand and Europe, while lower rates are found in Africa and Southern Asia. Projections for 2040 indicate a rise to 3.2 million new cases and 1.6 million deaths, particularly in high development index regions, underscoring the need for improved prevention and detection. Despite advancements in screening methods and polyp removal, CRC mortality remains high in the United States due to non-adherence to recommended tests. Barriers such as cost and lack of insurance contribute to this issue. Cell-free DNA (cfDNA) blood-based testing offers a promising alternative, with studies showing 83.1% sensitivity for CRC and 89.6% specificity for advanced neoplasia, comparable to traditional screening methods but with reduced risk of adverse events. The recent FDA approval of the Shield blood test, which has demonstrated 83% efficacy in detecting late-stage CRC, represents a significant advancement. Incorporating cfDNA testing into screening protocols could improve accessibility and compliance, especially for those unwilling or unable to undergo more invasive procedures. Regular evaluation of cfDNA testing, including Shield, is essential for enhancing CRC screening strategies and patient outcomes.

摘要

结直肠癌(CRC)仍然是一个重大的全球健康挑战,据 2020 年报告,全球约有 190 万例新发病例和 93 万例死亡病例。澳大利亚/新西兰和欧洲的发病率最高,而非洲和南亚的发病率较低。预计到 2040 年,新发病例将增加到 320 万例,死亡病例将增加到 160 万例,特别是在高发展指数地区,这突显了需要改进预防和检测措施。尽管筛查方法和息肉切除有了进展,但由于未遵循推荐的检测方法,CRC 的死亡率在美国仍然很高。费用和缺乏保险等障碍是造成这一问题的原因。基于无细胞 DNA(cfDNA)的血液检测提供了一种很有前途的替代方法,研究表明,cfDNA 检测对 CRC 的敏感性为 83.1%,对高级别肿瘤的特异性为 89.6%,与传统的筛查方法相当,但不良事件的风险降低。最近 FDA 批准的 Shield 血液检测在检测晚期 CRC 方面的有效性达到 83%,这是一个重大进展。将 cfDNA 检测纳入筛查方案可以提高可及性和依从性,特别是对于那些不愿意或无法进行更具侵入性程序的人。定期评估 cfDNA 检测,包括 Shield,对于增强 CRC 筛查策略和改善患者预后至关重要。

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