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循环肿瘤DNA(ctDNA)与液体活检在头颈部癌诊断和监测中的作用:迈向精准医学

The Role of ctDNA and Liquid Biopsy in the Diagnosis and Monitoring of Head and Neck Cancer: Towards Precision Medicine.

作者信息

Nassar Sami I, Suk Amber, Nguyen Shaun A, Adilbay Dauren, Pang John, Nathan Cherie-Ann O

机构信息

Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, Charleston, SC 29425, USA.

Department of Otolaryngology-Head and Neck Surgery, Louisiana State University Health Sciences Center, Shreveport, LA 71103, USA.

出版信息

Cancers (Basel). 2024 Sep 11;16(18):3129. doi: 10.3390/cancers16183129.

DOI:10.3390/cancers16183129
PMID:39335101
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11430155/
Abstract

Recent data have shown a continued rise in the worldwide annual incidence and mortality rates of head and neck cancers. The present standard for diagnosis and monitoring for disease recurrence or progression involves clinical examination, imaging, and invasive biopsy techniques of lesions suspected of being malignant. In addition to limitations relating to cost, time, and patient discomfort, these methodologies have inherent inaccuracies for detecting recurrence. In view of these limitations, the analysis of patient bodily fluid samples via liquid biopsy proposes a cost-effective and convenient alternative, which provides insight on the biogenetic and biomolecular underpinnings of oncologic disease processes. The monitoring of biomarkers for head and neck cancer via liquid biopsy, including circulating tumor DNA, circulating tumor cells, and circulating cell-free RNA, has shown clinical utility in the screening, diagnosis, prognostication, and monitoring of patients with various forms of head and neck cancer. The present review will provide an update on the current literature examining the use of liquid biopsy in head and neck cancer care and the clinical applicability of potential biomarkers, with a focus on viral and non-viral circulating tumor DNA. Possible future avenues for research to address specific shortcomings of liquid biopsy will be discussed.

摘要

最近的数据显示,全球头颈癌的年发病率和死亡率持续上升。目前用于疾病复发或进展的诊断和监测标准包括临床检查、影像学检查以及对疑似恶性病变进行侵入性活检技术。除了与成本、时间和患者不适相关的局限性外,这些方法在检测复发方面存在固有的不准确性。鉴于这些局限性,通过液体活检分析患者体液样本提出了一种经济高效且便捷的替代方法,它能深入了解肿瘤疾病过程的生物遗传学和生物分子基础。通过液体活检监测头颈癌的生物标志物,包括循环肿瘤DNA、循环肿瘤细胞和循环游离RNA,已在各种形式的头颈癌患者的筛查、诊断、预后和监测中显示出临床实用性。本综述将更新当前关于液体活检在头颈癌治疗中的应用以及潜在生物标志物临床适用性的文献,重点关注病毒和非病毒循环肿瘤DNA。还将讨论未来可能解决液体活检特定缺点的研究途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b73/11430155/f04e400da209/cancers-16-03129-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b73/11430155/cde2aa7219f9/cancers-16-03129-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b73/11430155/f04e400da209/cancers-16-03129-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b73/11430155/cde2aa7219f9/cancers-16-03129-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b73/11430155/f04e400da209/cancers-16-03129-g002.jpg

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本文引用的文献

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Circulating tumour DNA detects somatic variants contributing to spatial and temporal intra-tumoural heterogeneity in head and neck squamous cell carcinoma.循环肿瘤DNA可检测到导致头颈部鳞状细胞癌肿瘤内空间和时间异质性的体细胞变异。
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Quantification of human papillomavirus cell-free DNA from low-volume blood plasma samples by digital PCR.
与结直肠癌腺瘤-癌序列相关的循环RNA标志物
Int J Mol Sci. 2025 Feb 11;26(4):1518. doi: 10.3390/ijms26041518.
采用数字 PCR 定量分析低体积血清水杨酸样本中的人乳头瘤病毒游离 DNA。
Microbiol Spectr. 2024 Jul 2;12(7):e0002424. doi: 10.1128/spectrum.00024-24. Epub 2024 Jun 3.
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Molecular diagnosis of nasopharyngeal carcinoma: Past and future.鼻咽癌的分子诊断:过去与未来
Biomed J. 2025 Feb;48(1):100748. doi: 10.1016/j.bj.2024.100748. Epub 2024 May 23.
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Circulating tumor cells: a valuable indicator for locally advanced nasopharyngeal carcinoma.循环肿瘤细胞:局部晚期鼻咽癌的有价值指标。
Eur Arch Otorhinolaryngol. 2024 Sep;281(9):4963-4972. doi: 10.1007/s00405-024-08714-w. Epub 2024 May 11.
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Circulating tumor DNA in liquid biopsy: Current diagnostic limitation.液体活检中的循环肿瘤 DNA:当前的诊断局限性。
World J Gastroenterol. 2024 Apr 21;30(15):2175-2178. doi: 10.3748/wjg.v30.i15.2175.
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