Preoperative cell-free DNA concentration in plasma as a diagnostic and prognostic biomarker of clear cell renal cell carcinoma

Contemporary Oncology Pub Date : 2024-02-21 DOI:10.5114/wo.2023.135366

T. Milecki, Katarzyna Kluzek, Natalia Pstrąg, Andrzej Antczak, W. Cieślikowski, Mateusz Wichtowski, Ł. Kuncman, Z. Kwias, Joanna Wesoły

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Abstract

Introduction Assessment of renal tumour masses is based on conventional imaging studies (computer tomography or magnetic resonance), which does not allow characterisation of the histopathological type. Moreover, the prediction of prognosis in localised and metastatic renal cell carcinoma requires improvement as well. Analysis of circulating free DNA (cfDNA) in blood is one of the variants of liquid biopsy that may improve diagnostics and prognosis issues of patients with renal tumour masses suspected to be renal cell carcinoma. The aim of the study was to assess the diagnostic and prognostic role of preoperative cfDNA concentration in the plasma samples of clear cell renal cell carcinoma (ccRCC) patients. Material and methods The preoperative plasma cfDNA concentration was assessed in ccRCC patients (n = 46) and healthy individuals (control group) (n = 17). The circulating free DNA concentration was reflected by the 90 bp DNA fragments determined by real-time polymerase chain reaction. Results The median cfDNA concentration was significantly higher in ccRCC patients (n = 46) compared to the control g roup (n = 17) (2588 ±2554 copies/ml vs. 960 ±490 copies/ml, p < 0.01). In multivariate analysis, the preoperative plasma cfDNA concentration was the significant factor increasing the probability of ccRCC detection (OR: 1.003; 95% CI: 1.001–1.005). The median cfDNA concentration depended on the stage of ccRCC; it was higher in metastatic ccRCC patients (n = 11) compared to non-metastatic ccRCC patients (n = 35) (3619 ±4059 copies/ml vs. 2473 ±1378 copies/ml, p < 0.03). Kaplan-Meier survival analysis demon-strated that patients with high cfDNA values (above 2913 copies/ml) had significantly worse cancer-specific survival (HR: 4.5; 95% CI: 1.3–16.9, log-rank Mantel-Cox test p = 0.015). Conclusions Preoperative plasma cfDNA concentration has diagnostic and prognostic potential in ccRCC pa-tients.

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作为透明细胞肾细胞癌诊断和预后生物标志物的血浆中术前无细胞 DNA 浓度

导言：肾肿瘤肿块的评估基于传统的成像研究（计算机断层扫描或磁共振），无法确定组织病理学类型。此外，对局部和转移性肾细胞癌预后的预测也需要改进。血液中的循环游离 DNA（cfDNA）分析是液体活检的变体之一，可改善疑似肾细胞癌肾肿瘤肿块患者的诊断和预后问题。本研究旨在评估透明细胞肾细胞癌（ccRCC）患者术前血浆样本中 cfDNA 浓度的诊断和预后作用。材料和方法评估了ccRCC患者（46人）和健康人（对照组）（17人）术前血浆中的cfDNA浓度。循环游离 DNA 浓度通过实时聚合酶链反应测定的 90 bp DNA 片段来反映。结果与对照组（17 人）相比，ccRCC 患者（46 人）的 cfDNA 中位浓度明显更高（2588 ±2554 拷贝/毫升 vs. 960 ±490 拷贝/毫升，P <0.01）。在多变量分析中，术前血浆 cfDNA 浓度是增加发现 ccRCC 概率的重要因素（OR：1.003；95% CI：1.001-1.005）。中位cfDNA浓度取决于ccRCC的分期；与非转移性ccRCC患者（35人）相比，转移性ccRCC患者（11人）的中位cfDNA浓度更高（3619 ±4059 copies/ml vs. 2473 ±1378 copies/ml，P < 0.03）。Kaplan-Meier生存分析表明，cfDNA值高（超过2913拷贝/毫升）的患者癌症特异性生存率明显较低（HR：4.5；95% CI：1.3-16.9，对数秩Mantel-Cox检验p = 0.015）。结论术前血浆 cfDNA 浓度对 ccRCC 患者具有诊断和预后潜力。

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Contemporary Oncology

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