肾细胞癌循环肿瘤DNA的研究进展

Xinyi Zhang, M. Dong, Kaiyuan Zhou
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摘要

肾细胞癌(RCC)是泌尿系统最常见的肿瘤之一,其发病率在美国男性和女性中分别排名第7和第8,近5年来呈持续上升趋势。在中国,碾压混凝土也呈现出显著的增长趋势。由于早期症状不明显,许多患者在疾病晚期被诊断出来,预后往往很差。因此,早期诊断和治疗对碾压混凝土的控制尤为重要。随着影像学模式创新时代的到来,甚至不可能在患者中早期检测到RCC。然而,随着液体活检价值的稳步提高和下一代测序技术的出现,肿瘤基因组学的研究不断推进,测序与液体活检相结合被应用于实体瘤。随着这种融合,循环肿瘤DNA(ctDNA)检测越来越成熟,为解决这一问题提供了一种新的工具。循环肿瘤DNA(ctDNA)是血液或体液中DNA的肿瘤衍生片段。它可以反映整个肿瘤基因组的信息,并且易于获得。ctDNA在肿瘤诊断、预后、疾病复发、疗效和化疗耐药性监测等方面具有重要的临床应用价值。最近的研究表明,ctDNA在RCCS中也具有临床价值,因为循环肿瘤DNA检测可以作为早期诊断和监测病程的生物标志物。本文综述了ctDNA在RCCS临床诊断和治疗中的应用。
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Research Progress on Circulating Tumor DNA in Renal Cell Carcinoma
Renal cell carcinoma (RCC) is one of the most common tumors in urinary system, and its incidence ranks 7th and 8th in male and female in the United States with a continuous upward trend in last 5 years. In China, RCC also shows a significant growth trend. Because the early symptoms are not obvious, many patients are diagnosed at an advanced stage of the disease and often have a poor prognosis. Therefore, early diagnosis and treatment are particularly important for RCC control. With the advent of the era of innovation in imaging modalities, even early detection of RCC in patients is not possible. However, with the steady increase in the value of liquid biopsy and the emergence of Next-generation sequencing technology, the research on tumor genomics continues to advance, and sequencing combined with liquid biopsy is applied in solid tumors. With this merging, circulating tumor DNA (ctDNA) detection is becoming more and more mature, providing a new tool to resolve this problem. Circulating tumor DNA (ctDNA) is a tumor-derived fragment of DNA in blood or body fluids. It can reflect the information of the entire tumor genome and is easy to obtain. ctDNA has important clinical application in tumor diagnosis, prognosis, and monitoring of disease recurrence, therapeutic effect and chemotherapy resistance. Recent studies show that ctDNA also have clinical value in RCCS as circulating tumor DNA detection may serve as a biomarker for early diagnosis, and monitoring disease course. This article reviews the application of ctDNA in the clinical diagnosis and treatment of RCCS.
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