人工智能血液检测提供了一种可靠的方法来识别肺癌

06/06/2024

Velculescu 2
通过无创评估无细胞DNA片段谱来检测肺癌的DNA评估早期拦截(DELFI)方法. Credit: Cancer Discovery

利用人工智能技术识别与肺癌相关的DNA片段模式, researchers from the Johns Hopkins Kimmel Cancer Center 其他机构已经开发并验证了一种液体活检方法,这种方法可能有助于更早地发现肺癌.

In a prospective study published June 3 in Cancer Discovery, 该团队证明,人工智能技术可以根据血液中的DNA片段模式识别出更有可能患肺癌的人. The study enrolled about 1,000名符合低剂量计算机断层扫描(CT)传统肺癌筛查标准的患有和未患癌症的参与者. Individuals were recruited to participate at 47 centers in 23 U.S. states. 通过帮助识别最危险的患者以及谁将从后续CT筛查中受益, 这种新的血液检测可能会促进肺癌筛查,降低死亡率, according to computer modeling by the team.

“我们有一个简单的血液测试,可以在医生的办公室里做,可以告诉推荐十大正规网赌平台他们是否有潜在的肺癌迹象,是否应该进行后续的CT扫描,” says the study’s corresponding author, Victor E. Velculescu, M.D., Ph.D., 约翰霍普金斯金梅尔癌症中心肿瘤学教授兼癌症遗传学和表观遗传学项目联合主任.

Lung cancer is the deadliest cancer in the United States, according to the National Cancer Institute, and worldwide, according to the World Health Organization. 每年对高危患者进行CT扫描可以帮助早期发现肺癌, when they are most treatable, and help avert lung cancer deaths. Screening is recommended by the U.S. 针对全国1500万年龄在50到80岁之间有吸烟史的人, 然而,每年只有大约6%-10%的符合条件的人接受筛查. People may be reticent to follow through on screening, Velculescu explains, due to the time it takes to arrange and go to an appointment, and the low doses of radiation they are exposed to from the scan.

To help overcome some of these hurdles, Velculescu和他的同事在过去的五年里开发了一种测试方法,利用人工智能来检测肺癌患者的DNA片段模式. 它利用了正常细胞和癌细胞中DNA包装方式的差异. DNA is neatly and consistently folded up in healthy cells, almost like a rolled-up ball of yarn, but DNA in cancer cells is more disorganized. When both types of cells die, fragments of DNA end up in the blood. 癌症患者体内的DNA片段往往比非癌症患者体内的DNA片段更加混乱和不规则.

该团队训练了人工智能软件,以识别576名肺癌患者或非肺癌患者血液中DNA片段的特定模式. 然后,他们验证了这种方法在第二组382名患有和没有癌症的人身上有效. 根据他们的分析,该测试的负预测值为99.8%,这意味着每1000个接受检测的人中只有2个可能被遗漏并患上肺癌.

该小组的计算机模拟显示,如果该测试在五年内将肺癌筛查率提高到50%, 它可以使肺癌的检测数量增加四倍,并使早期发现的癌症比例增加约10%,而早期发现的癌症是最可治疗的. That could prevent about 14,000 cancer deaths over five years.

Velculescu说:“这种测试成本低廉,而且可以大规模进行。. “我们相信这将使肺癌筛查更容易获得,并帮助更多的人接受筛查. This will lead to more cancers being detected and treated early.”  

根据临床实验室改进修正案,该测试目前可通过DELFI诊断作为基于实验室的测试. However, the team plans to seek approval from the U.S. Food and Drug Administration for lung cancer screening. Velculescu的同事还计划研究类似的方法是否可以用于检测其他类型的癌症.

Robert B. Scharpf of Johns Hopkins co-authored the study. Additional co-authors were from the Cleveland Clinic, DELFI Diagnostics, Medicus Economics LLC, Miami Cancer Institute, the Pan American Center for Oncology, Washington University, Centura Health, Vanderbilt Health, Stratevi, Massachusetts General Hospital, the Medical University of South Carolina, the Department of Veterans Affairs, the Perelman School of Medicine at the University of Pennsylvania, New York University Langone Health, 阿勒格尼健康网络和纪念斯隆凯特琳癌症中心.

The work was supported in part by DELFI Diagnostics, the Dr. Miriam and Sheldon G. Adelson Medical Research Foundation, 站起来对抗癌症-肺癌-美国肺癌协会肺癌拦截梦之队转化研究基金, 站起来对抗癌症- dcs国际转化癌症研究梦之队资助, the Gray Foundation, The Honorable Tina Brozman Foundation, the Commonwealth Foundation, the Cole Foundation and the National Institutes of Health.

Velculescu和Scharpf是约翰霍普金斯大学提交的有关癌症检测的无细胞DNA专利申请的发明人,该专利已授权给DELFI诊断公司, LabCorp, Qiagen, Sysmex, Agios, Genzyme, Esoterix, Ventana and ManaT Bio. Velculescu于2022年2月将其在Personal Genome Diagnostics (PGDx)的股权转让给LabCorp. Velculescu is a founder of DELFI Diagnostics, serves on the board of directors, and owns DELFI Diagnostics stock. Scharpf是DELFI Diagnostics的创始人和顾问,并拥有DELFI Diagnostics的股票. Velculescu、Scharpf和Johns Hopkins从该公司获得版税和费用. The Johns Hopkins University also owns equity in DELFI Diagnostics. Velculescu is an adviser to Viron Therapeutics and Epitope. 这些关系由约翰霍普金斯大学根据其利益冲突政策进行管理.

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