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[游离循环DNA在癌症诊断中的潜力]

[Potential of Cell-free Circulating DNA in Diagnosis of Cancer].

作者信息

Kubaczková V, Sedlaříková L, Bešše L, Almaši M, Hájek R, Ševčíková S

出版信息

Klin Onkol. 2015;28(4):251-9. doi: 10.14735/amko2015251.

Abstract

Circulating cell-free DNA (cf-DNA) is characterized as extracellular DNA that may be present in the blood of healthy individuals in low concentrations. Cf-DNA is released by apoptosis or necrosis into the bloodstream. Increased levels are found in pathological conditions, such as inflammation, autoimmune diseases, or stress. Significant increase of cf-DNA is particularly evident in patients with malignancies, especially in the advanced stages of the disease. In this case, the tumor specific cf-DNA is released by necrosis from the cells of primary tumor and metastases. Recently, many studies concentrate on the so-called 'liquid biopsies' that allow detection of circulating tumor cells and circulating nucleic acids from peripheral blood for tumor diagnostics. Quantitative methods and detection of genetic and epigenetic alternations of cf-DNA in patients with different malignancies have potential applications in molecular diagnosis, prognosis, monitoring of disease progression and response to treatment. This review focuses on potential utility of cf-DNA as a blood biomarker in selected solid tumors and hematologic malignancies.

摘要

循环游离DNA(cf-DNA)的特征是细胞外DNA,健康个体血液中可能以低浓度存在。Cf-DNA通过细胞凋亡或坏死释放到血液中。在炎症、自身免疫性疾病或应激等病理状态下,其水平会升高。Cf-DNA显著增加在恶性肿瘤患者中尤为明显,尤其是在疾病晚期。在这种情况下,肿瘤特异性cf-DNA由原发性肿瘤和转移灶细胞坏死释放。最近,许多研究集中在所谓的“液体活检”上,即通过检测外周血中的循环肿瘤细胞和循环核酸进行肿瘤诊断。不同恶性肿瘤患者cf-DNA的定量方法以及基因和表观遗传改变的检测在分子诊断、预后、疾病进展监测和治疗反应方面具有潜在应用。本综述重点关注cf-DNA作为血液生物标志物在特定实体瘤和血液系统恶性肿瘤中的潜在用途。

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