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液体活检利用游离 DNA 进行肝细胞癌的早期诊断。

Liquid biopsy using cell-free DNA in the early diagnosis of hepatocellular carcinoma.

机构信息

The oncology department, Xiangtan Central Hospital, Hunan, China.

The Medical Department, The State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing Simcere Medical Laboratory Science Co., Ltd, Nanjing, 210002, China.

出版信息

Invest New Drugs. 2023 Jun;41(3):532-538. doi: 10.1007/s10637-023-01363-6. Epub 2023 Apr 26.

DOI:10.1007/s10637-023-01363-6
PMID:37099161
Abstract

Hepatocellular carcinoma ranks fourth in cancer-related causes of death worldwide and second in China. Patients with hepatocellular carcinoma (HCC) at the early stage have a better prognosis compared to HCC patients at the late stage. Therefore, early screening for HCC is critical for clinical treatment decisions and improving the prognosis of patients. Ultrasound (US), computed tomography (CT), and serum alpha fetoprotein (AFP) have been used to screen HCC, but HCC is still difficult to be diagnosed in the early stage due to the low sensitivity of the above methods. It is urgent to find a method with high sensitivity and specificity for the early diagnosis of HCC. Liquid biopsy is a noninvasive detection method using blood or other bodily fluids. Cell-free DNA (cfDNA) and circulating tumor DNA (ctDNA) are important biomarkers for liquid biopsy. Recently, HCC screening methods using the application of cfDNA and ctDNA have become the hot spot of early HCC diagnostics. In this mini review, we summarize the latest research progress of liquid biopsy based on blood cfDNA in early screening of HCC.

摘要

肝细胞癌(HCC)在全球癌症相关死亡原因中排名第四,在中国排名第二。与晚期 HCC 患者相比,早期 HCC 患者的预后更好。因此,早期筛查 HCC 对于临床治疗决策和改善患者预后至关重要。超声(US)、计算机断层扫描(CT)和血清甲胎蛋白(AFP)已被用于筛查 HCC,但由于上述方法的灵敏度较低,HCC 仍难以在早期诊断。迫切需要找到一种具有高灵敏度和特异性的方法来早期诊断 HCC。液体活检是一种使用血液或其他体液进行的非侵入性检测方法。无细胞 DNA(cfDNA)和循环肿瘤 DNA(ctDNA)是液体活检的重要生物标志物。最近,使用 cfDNA 和 ctDNA 应用的 HCC 筛查方法已成为早期 HCC 诊断的热点。在这篇迷你综述中,我们总结了基于血液 cfDNA 的液体活检在早期筛查 HCC 方面的最新研究进展。

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本文引用的文献

1
The Effect of Preanalytical and Physiological Variables on Cell-Free DNA Fragmentation.分析前和生理变量对循环游离 DNA 片段化的影响。
Clin Chem. 2022 Jun 1;68(6):803-813. doi: 10.1093/clinchem/hvac029.
2
A multi-analyte cell-free DNA-based blood test for early detection of hepatocellular carcinoma.一种基于多分析物循环游离 DNA 的血液检测方法,用于早期肝癌检测。
Hepatol Commun. 2022 Jul;6(7):1753-1763. doi: 10.1002/hep4.1918. Epub 2022 Mar 3.
3
Liquid Biopsy Using Cell-Free or Circulating Tumor DNA in the Management of Hepatocellular Carcinoma.
液体活检利用游离或循环肿瘤 DNA 于肝细胞癌的管理。
Cell Mol Gastroenterol Hepatol. 2022;13(6):1611-1624. doi: 10.1016/j.jcmgh.2022.02.008. Epub 2022 Feb 17.
4
Cell-free DNA methylation markers for differential diagnosis of hepatocellular carcinoma.游离细胞 DNA 甲基化标记物用于肝细胞癌的鉴别诊断。
BMC Med. 2022 Jan 14;20(1):8. doi: 10.1186/s12916-021-02201-3.
5
Ultrasensitive and affordable assay for early detection of primary liver cancer using plasma cell-free DNA fragmentomics.利用血浆游离 DNA 片段组学进行原发性肝癌的早期检测:一种超灵敏且经济实惠的检测方法。
Hepatology. 2022 Aug;76(2):317-329. doi: 10.1002/hep.32308. Epub 2022 Jan 26.
6
Validation of a Novel Multitarget Blood Test Shows High Sensitivity to Detect Early Stage Hepatocellular Carcinoma.一种新型多靶点血液检测方法的验证显示其对早期肝细胞癌具有高灵敏度。
Clin Gastroenterol Hepatol. 2022 Jan;20(1):173-182.e7. doi: 10.1016/j.cgh.2021.08.010. Epub 2021 Aug 13.
7
Noninvasive Detection of Hepatocellular Carcinoma with Circulating Tumor DNA Features and α-Fetoprotein.基于循环肿瘤 DNA 特征和甲胎蛋白的肝细胞癌无创检测。
J Mol Diagn. 2021 Sep;23(9):1174-1184. doi: 10.1016/j.jmoldx.2021.06.003. Epub 2021 Jun 26.
8
Sex and Race-Related DNA Methylation Changes in Hepatocellular Carcinoma.肝细胞癌中与性别和种族相关的DNA甲基化变化
Int J Mol Sci. 2021 Apr 7;22(8):3820. doi: 10.3390/ijms22083820.
9
Plasma cell free DNA methylation markers for hepatocellular carcinoma surveillance in patients with cirrhosis: a case control study.血浆无细胞游离 DNA 甲基化标志物用于肝硬化患者肝癌监测的病例对照研究。
BMC Gastroenterol. 2021 Mar 25;21(1):136. doi: 10.1186/s12876-021-01714-8.
10
A Novel Blood-Based Panel of Methylated DNA and Protein Markers for Detection of Early-Stage Hepatocellular Carcinoma.一种新型基于血液的甲基化 DNA 和蛋白质标志物联合检测 panel 用于早期肝细胞癌的检测。
Clin Gastroenterol Hepatol. 2021 Dec;19(12):2597-2605.e4. doi: 10.1016/j.cgh.2020.08.065. Epub 2020 Sep 2.