循环肿瘤 DNA 及其在肝细胞癌的检测、预后和治疗中的作用。

IF 7 2区 医学 Q1 ONCOLOGY Chinese Journal of Cancer Research Pub Date : 2024-04-30 DOI:10.21147/j.issn.1000-9604.2024.02.07
Sana Rashid, Yingchuan Sun, Umair Ali Khan Saddozai, Sikandar Hayyat, Muhammad Usman Munir, Muhammad Usman Akbar, Muhammad Babar Khawar, Zhiguang Ren, Xinying Ji, Malik Ihsan Ullah Khan
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引用次数: 0

摘要

肝细胞癌(HCC)被认为是所有癌症类型中发病率排名第五的癌症,发病率排名第三。它的重复时间最长,复发率也很高。最近,最独特的技术是液体活检,液体活检携带许多标记物,其中最突出的是循环肿瘤 DNA(ctDNA)。研究ctDNA的方法多种多样,包括各种形式的聚合酶链反应(PCR)[乳液 PCR(ePCR)、数字 PCR(dPCR)和磁珠、乳液、扩增、磁性(BEAMing)PCR]。因此,ctDNA 被认为是一种潜在的生物标记物,可用于早期癌症检测、治疗监测以及肿瘤负荷的预测数据,对治疗或手术具有主观性。目前已根据ctDNA的变化研究了许多ctDNA生物标志物,如:1)单核苷酸变异(核苷酸的插入或缺失)标志物,包括TP53、KRAS和CCND1;2)拷贝数变异,包括 CDK6、EFGR、MYC 和 BRAF 等标记物;3)DNA 甲基化(RASSF1A、SEPT9、KMT2C 和 CCNA2);4)同基因突变,包括 CDKN2A、AXIN1 等 ctDNA 标记物;以及 5)基因的功能获得或丧失,尤其是对 HCC 而言。不同的研究人员进行了大量的研究,并取得了丰硕的成果。不过,ctDNA 也存在一些缺点,如数量少、片段异质性、稳定性差、突变拷贝和标准有限以及敏感性不同。不过,大量研究表明,ctDNA 是一种多价的癌症生物标记物,可被视为未来的诊断、预后和治疗药物。本文概述了与 HCC 发病和发展相关的许多基因变化情况,如信号通路失调、体细胞突变、单核苷酸多态性和基因组不稳定性。此外,该研究还致力于开发针对 HCC 的分子靶向治疗方法,并揭示一些有助于早期识别 HCC 的遗传途径。
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Circulating tumor DNA and its role in detection, prognosis and therapeutics of hepatocellular carcinoma.

Hepatocellular carcinoma (HCC) is considered the fifth most prevalent cancer among all types of cancers and has the third most morbidity value. It has the most frequent duplication time and a high recurrence rate. Recently, the most unique technique used is liquid biopsies, which carry many markers; the most prominent is circulating tumor DNA (ctDNA). Varied methods are used to investigate ctDNA, including various forms of polymerase chain reaction (PCR) [emulsion PCR (ePCR), digital PCR (dPCR), and bead, emulsion, amplification, magnetic (BEAMing) PCR]. Hence ctDNA is being recognized as a potential biomarker that permits early cancer detection, treatment monitoring, and predictive data on tumor burden are subjective to therapy or surgery. Numerous ctDNA biomarkers have been investigated based on their alterations such as 1) single nucleotide variations (either insertion or deletion of a nucleotide) markers including TP53, KRAS, and CCND1; 2) copy number variations which include markers such as CDK6, EFGR, MYC and BRAF; 3) DNA methylation (RASSF1A, SEPT9, KMT2C and CCNA2); 4) homozygous mutation includes ctDNA markers as CDKN2A, AXIN1; and 5) gain or loss of function of the genes, particularly for HCC. Various researchers have conducted many studies and gotten fruitful results. Still, there are some drawbacks to ctDNA namely low quantity, fragment heterogeneity, less stability, limited mutant copies and standards, and differential sensitivity. However, plenty of investigations demonstrate ctDNA's significance as a polyvalent biomarker for cancer and can be viewed as a future diagnostic, prognostic and therapeutic agent. This article overviews many conditions in genetic changes linked to the onset and development of HCC, such as dysregulated signaling pathways, somatic mutations, single-nucleotide polymorphisms, and genomic instability. Additionally, efforts are also made to develop treatments for HCC that are molecularly targeted and to unravel some of the genetic pathways that facilitate its early identification.

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来源期刊
自引率
9.80%
发文量
1726
审稿时长
4.5 months
期刊介绍: Chinese Journal of Cancer Research (CJCR; Print ISSN: 1000-9604; Online ISSN:1993-0631) is published by AME Publishing Company in association with Chinese Anti-Cancer Association.It was launched in March 1995 as a quarterly publication and is now published bi-monthly since February 2013. CJCR is published bi-monthly in English, and is an international journal devoted to the life sciences and medical sciences. It publishes peer-reviewed original articles of basic investigations and clinical observations, reviews and brief communications providing a forum for the recent experimental and clinical advances in cancer research. This journal is indexed in Science Citation Index Expanded (SCIE), PubMed/PubMed Central (PMC), Scopus, SciSearch, Chemistry Abstracts (CA), the Excerpta Medica/EMBASE, Chinainfo, CNKI, CSCI, etc.
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