Jani Chinmay, Abdallah Nour, Tan Alan, Mckay Rana R
University of Miami-Sylvester Comprehensive Cancer Center/Jackson Health System, Miami, FL, USA.
University of Connecticut, Hartford, CT, USA.
Kidney Cancer. 2024 Feb;8(1):205-225. doi: 10.1177/24684570241303346. Epub 2024 Dec 24.
Liquid biopsy techniques have developed rapidly in recent years and demonstrated success in cancer detection, disease characterization, and ongoing disease monitoring. These components, including circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), and cell-free DNA (cfDNA), offer minimally invasive diagnostic tools that provide valuable insights into the genomic landscape of tumors. Its applications have expanded to include various malignancies, including renal cell carcinoma (RCC). RCC, a heterogeneous malignancy, poses unique diagnostic and therapeutic challenges. Up to 40% of patients experience recurrence or metastasis following initial surgical resection, necessitating the need for precise diagnostic and prognostic tools. The application of liquid biopsy in RCC, particularly through CTCs and ctDNA/cfDNA, holds significant promise. This review first delves into the various methodologies of CTC and cfDNA/ctDNA detection in RCC and highlights their roles in RCC management. Next, we discuss in depth about current existing evidence for the utilization of liquid biopsy in RCC diagnosis, prognosis, treatment outcomes prediction and association with the progression of the disease. Despite advancements, RCC's biological features, including low ctDNA shedding and significant intratumoral heterogeneity, present challenges in the clinical application of liquid biopsy. The review also discusses the limitations of current techniques and emphasizes the need for standardized protocols and further validation in large, diverse cohorts. Future directions include integrating liquid biopsy with advanced imaging techniques and leveraging artificial intelligence to improve RCC diagnostics and patient management. With continued refinement, liquid biopsy could become an essential tool in personalized oncology, improving outcomes for RCC patients.
近年来,液体活检技术发展迅速,并在癌症检测、疾病特征描述和疾病进展监测方面取得了成功。这些成分,包括循环肿瘤细胞(CTC)、循环肿瘤DNA(ctDNA)和游离DNA(cfDNA),提供了微创诊断工具,为肿瘤的基因组格局提供了有价值的见解。其应用已扩展到包括各种恶性肿瘤,如肾细胞癌(RCC)。RCC是一种异质性恶性肿瘤,带来了独特的诊断和治疗挑战。高达40%的患者在初次手术切除后会出现复发或转移,因此需要精确的诊断和预后工具。液体活检在RCC中的应用,特别是通过CTC和ctDNA/cfDNA,具有重大前景。本综述首先深入探讨了RCC中CTC和cfDNA/ctDNA检测的各种方法,并强调了它们在RCC管理中的作用。接下来,我们深入讨论了目前关于液体活检在RCC诊断、预后、治疗结果预测以及与疾病进展关联方面的现有证据。尽管取得了进展,但RCC的生物学特性,包括低ctDNA释放和显著的肿瘤内异质性,给液体活检的临床应用带来了挑战。该综述还讨论了当前技术的局限性,并强调了在大型、多样化队列中需要标准化方案和进一步验证。未来的方向包括将液体活检与先进的成像技术相结合,并利用人工智能来改善RCC的诊断和患者管理。随着不断完善,液体活检可能成为个性化肿瘤学中的重要工具,改善RCC患者的治疗结果。