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液体活检最新进展。

Update on Liquid Biopsy.

作者信息

Mayerhoefer Marius E, Kienzle Andreas, Woo Sungmin, Vargas Hebert Alberto

机构信息

Department of Radiology, NYU Grossman School of Medicine, NYU Langone Health, 660 First Ave, New York, NY 10016.

Department of Biomedical Imaging and Image-guided Therapy, Division of General and Pediatric Radiology, Medical University of Vienna, Vienna, Austria.

出版信息

Radiology. 2025 Jun;315(3):e241030. doi: 10.1148/radiol.241030.

Abstract

Liquid biopsy helps detect cells and cell-derived metabolites, proteins, nucleic acids, and vesicles that are shed into body fluids by tumors. This diagnostic test requires only approximately 10 mL of blood or urine. It has received considerable attention as a minimally invasive tool for whole-body tumor interrogation for use in patients with cancer. It poses an attractive and potentially cost-effective alternative to invasive tissue sampling through tissue biopsies, especially serial assessments, such as for treatment response evaluation and mutations that occur during cancer treatment. Cell-free and circulating tumor DNA are the most frequently tested liquid biopsy analytes, and have shown promise for cancer screening, assessment of residual disease after treatment, and clinical outcome prediction and prognostication. Whereas liquid biopsy is less sensitive than imaging in early tumor stages, it is more specific and may help detect treatment response earlier than the Response Evaluation Criteria in Solid Tumors, or RECIST. Aimed primarily at radiologists, this review article provides an update on recent developments in the use of liquid biopsy, including findings from landmark clinical trials and U.S. regulatory approvals as companion diagnostic tests for clinical use, particularly in four malignancies: lymphoma, breast cancer, prostate cancer, and melanoma. Finally, current challenges for the clinical implementation of liquid biopsy are discussed.

摘要

液体活检有助于检测肿瘤释放到体液中的细胞、细胞衍生的代谢物、蛋白质、核酸和囊泡。这项诊断测试仅需约10毫升血液或尿液。作为一种用于癌症患者全身肿瘤检测的微创工具,它受到了广泛关注。与通过组织活检进行的侵入性组织采样相比,它是一种有吸引力且可能具有成本效益的替代方法,特别是对于连续评估,如治疗反应评估和癌症治疗期间发生的突变。游离肿瘤DNA和循环肿瘤DNA是最常检测的液体活检分析物,在癌症筛查、治疗后残留疾病评估以及临床结果预测和预后方面已显示出前景。虽然液体活检在肿瘤早期阶段不如影像学敏感,但它更具特异性,并且可能比实体瘤疗效评价标准(RECIST)更早地检测到治疗反应。这篇综述文章主要面向放射科医生,介绍了液体活检应用的最新进展,包括标志性临床试验的结果以及美国作为临床使用的伴随诊断测试的监管批准情况,特别是在四种恶性肿瘤:淋巴瘤、乳腺癌、前列腺癌和黑色素瘤方面。最后,讨论了液体活检临床应用目前面临的挑战。

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