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循环肿瘤DNA能否作为头颈部鳞状细胞癌诊断和预后的可靠生物标志物?

Does circulating tumor DNA apply as a reliable biomarker for the diagnosis and prognosis of head and neck squamous cell carcinoma?

作者信息

Ghiyasimoghaddam Negin, Shayan Navidreza, Mirkatuli Hanieh Alsadat, Baghbani Mohammadhasan, Ameli Nima, Ashari Zeynab, Mohtasham Nooshin

机构信息

Department of Emergency Medicine, Bohlool Hospital, Gonabad University of Medical Sciences, Gonabad, Iran.

Department of Medical Sciences, Mashhad Branch, Islamic Azad University, Mashhad, Iran.

出版信息

Discov Oncol. 2024 Sep 11;15(1):427. doi: 10.1007/s12672-024-01308-2.

DOI:10.1007/s12672-024-01308-2
PMID:39259454
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11390992/
Abstract

Oral cavity cancer is the most common type of head and neck cancer. There is no definitive standard diagnosis, prognosis, or treatment response biomarker panel based on simple, specific, non-invasive, and reliable methods for head and neck squamous cell carcinoma (HNSCC) patients. On the other hand, the frequent post-treatment biopsies make it challenging to discriminate residual disease or recurrent tumors following postoperative reparative and post-radiation changes. Saliva, blood plasma, and serum samples were commonly used to monitor HNSCC through liquid biopsies. Based on the evidence, the most prominent molecular-based fluid biomarker, such as circulating tumor DNA (ctDNA), has potential applications for early cancer diagnosis, screening, patient management, and surveillance. ctDNA showed genomic and epigenomic changes and the status of human papillomavirus (HPV) with the real-time monitoring of tumor status through cancer therapy. Due to the intra and inter-tumor heterogeneity of tumor cells like cancer stem cells (CSCs) and tumor microenvironment (TME) in HNSCC, the tiny tissue biopsy cannot reflect all genomic and transcriptomic abnormality. Most liquid biopsies are applied to detect circulating molecular biomarkers consisting of cell-free DNA (cfDNA), ctDNA, microRNA, mRNA, and exosome for monitoring tumor progression. Based on the results of previous studies, liquid biopsy can be applied for comprehensive multi-omic discovery by assessing the predictive value of ctDNA in both early and advanced cancers. Liquid biopsy can be used to evaluate molecular signature profiles in HNSCC patients, with great potential to help in early diagnosis, prognosis, surveillance, and treatment monitoring of tumors. These happen by designing longitudinal extensive cohort studies and the utility of organoid technology that promotes the context of personalized and precision cancer medicine.

摘要

口腔癌是头颈部最常见的癌症类型。对于头颈部鳞状细胞癌(HNSCC)患者,目前尚无基于简单、特异、非侵入性且可靠方法的明确标准诊断、预后或治疗反应生物标志物组合。另一方面,频繁的治疗后活检使得鉴别术后修复和放疗后改变后的残留疾病或复发性肿瘤具有挑战性。唾液、血浆和血清样本常用于通过液体活检监测HNSCC。基于现有证据,最突出的基于分子的液体生物标志物,如循环肿瘤DNA(ctDNA),在癌症早期诊断、筛查、患者管理和监测方面具有潜在应用价值。通过癌症治疗实时监测肿瘤状态时,ctDNA显示出基因组和表观基因组变化以及人乳头瘤病毒(HPV)状态。由于HNSCC中肿瘤细胞如癌症干细胞(CSCs)和肿瘤微环境(TME)存在肿瘤内和肿瘤间异质性,微小的组织活检无法反映所有的基因组和转录组异常。大多数液体活检用于检测由游离DNA(cfDNA)、ctDNA、微小RNA、信使RNA和外泌体组成的循环分子生物标志物,以监测肿瘤进展。基于先前研究结果,液体活检可通过评估ctDNA在早期和晚期癌症中的预测价值,用于全面的多组学发现。液体活检可用于评估HNSCC患者的分子特征谱,在帮助肿瘤的早期诊断、预后、监测和治疗监测方面具有巨大潜力。这些可通过设计纵向广泛队列研究以及利用类器官技术来实现,从而推动个性化和精准癌症医学的发展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e6/11390992/ef3ab9daba14/12672_2024_1308_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e6/11390992/ef3ab9daba14/12672_2024_1308_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40e6/11390992/ef3ab9daba14/12672_2024_1308_Fig1_HTML.jpg

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TGFβ carrying exosomes in plasma: potential biomarkers of cancer progression in patients with head and neck squamous cell carcinoma.
口腔癌的早期分子诊断与综合治疗
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