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基于循环肿瘤 DNA 的宫颈癌遗传特征:我们能从血液中了解到什么?

Cervical Cancer Genetic Profile through Circulating Tumor DNA: What Can We Learn from Blood?

机构信息

Department of Obstetrics and Gynaecology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41500 Larisa, Greece.

Department of Gynecology and Reproductive Medicine, Karolinska University Hospital, Huddinge, 141 86 Stockholm, Sweden.

出版信息

Biomolecules. 2024 Jul 10;14(7):825. doi: 10.3390/biom14070825.

DOI:10.3390/biom14070825
PMID:39062539
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11275054/
Abstract

Cervical cancer (CC) is one of the deadliest gynecological cancers worldwide. Human papillomavirus is the main etiological agent responsible for the initiation and development of most CC cases. The standard method utilized for CC screening in the global population is the cytological Pap smear test. Despite its effective validity in detecting precancerous lesions and its response to layer stages of this disease, greater screening and diagnostic reliability are needed, as well as an improvement in specificity and sensitivity. In this context, the use of liquid biopsies, like blood, for the isolation of circulating tumor DNA (ctDNA) in CC screening, diagnosis, prognosis, and surveillance could fill the gaps that still exist. In the present review, we aim to study the literature in order to collect knowledge on blood-based liquid biopsy based on descriptions of its precious molecular content and its utilization as a potential tool for CC patients' management. We will mainly focus on the important role of the novel ctDNA and the unique possibilities to additionally use HPV-ctDNA in CC at various stages of clinical application.

摘要

宫颈癌(CC)是全球最致命的妇科癌症之一。人乳头瘤病毒(HPV)是导致大多数 CC 病例发生和发展的主要病因。目前全球范围内用于 CC 筛查的标准方法是细胞学巴氏涂片检查。尽管该方法在检测癌前病变及其对疾病各层阶段的反应方面具有有效性,但仍需要更大的筛查和诊断可靠性,以及提高特异性和敏感性。在这种情况下,使用液体活检(如血液)来分离 CC 筛查、诊断、预后和监测中的循环肿瘤 DNA(ctDNA),可以填补仍存在的空白。在本综述中,我们旨在研究文献,以收集有关基于血液的液体活检的知识,描述其珍贵的分子内容,并将其作为 CC 患者管理的潜在工具加以利用。我们将主要关注新型 ctDNA 的重要作用,以及在 CC 的各个临床应用阶段额外使用 HPV-ctDNA 的独特可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c8/11275054/4f0e54172be8/biomolecules-14-00825-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c8/11275054/4f0e54172be8/biomolecules-14-00825-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c8/11275054/4f0e54172be8/biomolecules-14-00825-g001.jpg

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J Epidemiol Glob Health. 2024 Mar;14(1):94-101. doi: 10.1007/s44197-023-00172-7. Epub 2024 Jan 3.
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Clinical applications and utility of ctDNA in cervical cancer and its precursor lesions: from screening to predictive biomarker.循环肿瘤DNA(ctDNA)在宫颈癌及其前驱病变中的临床应用与价值:从筛查到预测性生物标志物
Cancer Cell Int. 2023 Dec 18;23(1):329. doi: 10.1186/s12935-023-03132-0.
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Clinical Validation of Human Papilloma Virus Circulating Tumor DNA for Early Detection of Residual Disease After Chemoradiation in Cervical Cancer.
人乳头瘤病毒循环肿瘤 DNA 用于宫颈癌放化疗后残余疾病早期检测的临床验证。
J Clin Oncol. 2024 Feb 1;42(4):431-440. doi: 10.1200/JCO.23.00954. Epub 2023 Nov 16.
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Using cfDNA and ctDNA as Oncologic Markers: A Path to Clinical Validation.利用 cfDNA 和 ctDNA 作为肿瘤标志物:通往临床验证的道路。
Int J Mol Sci. 2023 Aug 25;24(17):13219. doi: 10.3390/ijms241713219.
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Predictive impact of human papillomavirus circulating tumor DNA in treatment response monitoring of HPV-associated cancers; a meta-analysis on recurrent event endpoints.循环肿瘤 HPV DNA 对 HPV 相关癌症治疗反应监测的预测影响:针对复发性事件终点的荟萃分析。
Cancer Med. 2023 Sep;12(17):17592-17602. doi: 10.1002/cam4.6377. Epub 2023 Jul 26.
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Digital droplet PCR-based quantification of ccfHPV-DNA as liquid biopsy in HPV-driven cervical and vulvar cancer.基于数字液滴PCR的ccfHPV-DNA定量分析作为人乳头瘤病毒驱动的宫颈癌和外阴癌的液体活检
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Carcinogenesis and management of human papillomavirus-associated cervical cancer.人乳头瘤病毒相关宫颈癌的致癌作用与管理。
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