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“液体活检”在肝细胞癌中的临床作用。

The clinical role of 'liquid biopsy' in hepatocellular carcinoma.

作者信息

Howell Jessica A, Sharma Rohini

机构信息

Department of Hepatology, St Mary's Hospital, Imperial College, London, UK.

Centre for Population Health, MacFarlane-Burnet Institute, Melbourne, Australia.

出版信息

Hepat Oncol. 2016 Jan;3(1):45-55. doi: 10.2217/hep.15.38. Epub 2015 Nov 30.

DOI:10.2217/hep.15.38
PMID:30191026
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6095325/
Abstract

Circulating free tumor DNA (ctDNA) is DNA released from necrotic or apoptotic tumor cells into the bloodstream. Absolute levels of ctDNA, as well as genetic mutations and epigenetic changes detected in ctDNA are useful biomarkers of tumor biology, progression and response to therapy in many tumor types and recent evidence suggests they may be useful in hepatocellular carcinoma (HCC). ctDNA detected in blood, therefore, offers a minimally invasive, easily repeated 'liquid biopsy' of cancer, providing real-time dynamic analysis of tumor behavior and treatment response that could revolutionize both clinical and research practice in HCC. In this review, we provide a critical summary of the evidence for the utility of ctDNA as a diagnostic and prognostic biomarker in HCC.

摘要

循环游离肿瘤DNA(ctDNA)是从坏死或凋亡的肿瘤细胞释放到血液中的DNA。ctDNA的绝对水平以及在ctDNA中检测到的基因突变和表观遗传变化是许多肿瘤类型中肿瘤生物学、进展和治疗反应的有用生物标志物,最近的证据表明它们可能在肝细胞癌(HCC)中有用。因此,血液中检测到的ctDNA提供了一种微创、易于重复的癌症“液体活检”,可对肿瘤行为和治疗反应进行实时动态分析,这可能会彻底改变HCC的临床和研究实践。在本综述中,我们对ctDNA作为HCC诊断和预后生物标志物的效用证据进行了批判性总结。

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Front Oncol. 2022 Nov 28;12:1016952. doi: 10.3389/fonc.2022.1016952. eCollection 2022.
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MLH1 single-nucleotide variant in circulating tumor DNA predicts overall survival of patients with hepatocellular carcinoma.循环肿瘤 DNA 中 MLH1 单核苷酸变异可预测肝细胞癌患者的总生存期。
Sci Rep. 2020 Oct 20;10(1):17862. doi: 10.1038/s41598-020-74494-y.
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Systemic treatments for hepatocellular carcinoma: challenges and future perspectives.肝细胞癌的全身治疗:挑战与未来展望
Hepat Oncol. 2018 Feb 8;5(1):HEP01. doi: 10.2217/hep-2017-0020. eCollection 2018 Jan.

本文引用的文献

1
Circulating free DNA in the progression of liver damage to hepatocellular carcinoma.循环游离DNA在肝损伤进展为肝细胞癌过程中的作用
Hepatol Int. 2013 Oct;7(4):1050-7. doi: 10.1007/s12072-013-9481-9. Epub 2013 Nov 2.
2
Targeted deep DNA methylation analysis of circulating cell-free DNA in plasma using massively parallel semiconductor sequencing.采用大规模平行半导体测序技术对血浆中循环无细胞 DNA 进行靶向深度 DNA 甲基化分析。
Epigenomics. 2015;7(3):353-62. doi: 10.2217/epi.14.94.
3
Circulating tumor cells in hepatocellular carcinoma: a pilot study of detection, enumeration, and next-generation sequencing in cases and controls.肝细胞癌中的循环肿瘤细胞:病例与对照的检测、计数及二代测序的初步研究
BMC Cancer. 2015 Mar 31;15:206. doi: 10.1186/s12885-015-1195-z.
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Value of quantitative and qualitative analyses of circulating cell-free DNA as diagnostic tools for hepatocellular carcinoma: a meta-analysis.循环游离DNA定量和定性分析作为肝细胞癌诊断工具的价值:一项荟萃分析
Medicine (Baltimore). 2015 Apr;94(14):e722. doi: 10.1097/MD.0000000000000722.
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Genome-wide methylation profiling of the different stages of hepatitis B virus-related hepatocellular carcinoma development in plasma cell-free DNA reveals potential biomarkers for early detection and high-risk monitoring of hepatocellular carcinoma.游离DNA中乙型肝炎病毒相关肝细胞癌发展不同阶段的全基因组甲基化分析揭示了肝细胞癌早期检测和高危监测的潜在生物标志物。
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Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients.肝细胞癌患者血浆DNA的延长与缩短
Proc Natl Acad Sci U S A. 2015 Mar 17;112(11):E1317-25. doi: 10.1073/pnas.1500076112. Epub 2015 Feb 2.
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Realizing the potential of plasma genotyping in an age of genotype-directed therapies.在基因型导向治疗时代实现血浆基因分型的潜力。
J Natl Cancer Inst. 2014 Aug 8;106(8). doi: 10.1093/jnci/dju214. Print 2014 Aug.
8
Circulating tumor cells in the central and peripheral venous compartment - assessing hematogenous dissemination after transarterial chemoembolization of hepatocellular carcinoma.中央和外周静脉腔中的循环肿瘤细胞——评估肝细胞癌经动脉化疗栓塞术后的血行播散
Onco Targets Ther. 2014 Jul 18;7:1311-8. doi: 10.2147/OTT.S62605. eCollection 2014.
9
Clinical significance of EpCAM mRNA-positive circulating tumor cells in hepatocellular carcinoma by an optimized negative enrichment and qRT-PCR-based platform.优化的负向富集和 qRT-PCR 平台检测肝细胞癌中 EpCAM mRNA 阳性循环肿瘤细胞的临床意义。
Clin Cancer Res. 2014 Sep 15;20(18):4794-805. doi: 10.1158/1078-0432.CCR-14-0251. Epub 2014 Jul 9.
10
Detection of EGFR mutations in plasma and biopsies from non-small cell lung cancer patients by allele-specific PCR assays.通过等位基因特异性聚合酶链反应检测非小细胞肺癌患者血浆和活检组织中的表皮生长因子受体(EGFR)突变
BMC Cancer. 2014 Apr 28;14:294. doi: 10.1186/1471-2407-14-294.