Circulating tumour DNA analysis for early detection of lung cancer: a systematic review.

4区 医学
Annals of translational medicine Pub Date : 2024-08-01 Epub Date: 2024-06-22 DOI:10.21037/atm-23-1572
W K Jacky Lam, Jinyue Bai, Mary-Jane L Ma, Y T Tommy Cheung, Peiyong Jiang
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引用次数: 0

Abstract

Background: Circulating tumor DNA (ctDNA) analysis has been applied in cancer diagnostics including lung cancer. Specifically for the early detection purpose, various modalities of ctDNA analysis have demonstrated their potentials. Such analyses have showed diverse performance across different studies.

Methods: We performed a systematic review of original studies published before 1 January 2023. Studies that evaluated ctDNA alone and in combination with other biomarkers for early detection of lung cancer were included.

Results: The systematic review analysis included 56 original studies that were aimed for early detection of lung cancer. There were 39 studies for lung cancer only and 17 for pan-cancer early detection. Cancer and control cases included were heterogenous across studies. Different molecular features of ctDNA have been evaluated, including 7 studies on cell-free DNA concentration, 17 on mutation, 29 on methylation, 5 on hydroxymethylation and 8 on fragmentation patterns. Among these 56 studies, 17 have utilised different combinations of the above-mentioned ctDNA features and/or circulation protein markers. For all the modalities, lower sensitivities were reported for the detection of early-stage cancer.

Conclusions: The systematic review suggested the clinical utility of ctDNA analysis for early detection of lung cancer, alone or in combination with other biomarkers. Future validation with standardised testing protocols would help integration into clinical care.

用于肺癌早期检测的循环肿瘤 DNA 分析:系统综述。
背景:循环肿瘤 DNA(ctDNA)分析已被应用于包括肺癌在内的癌症诊断。特别是在早期检测方面,各种ctDNA分析模式已显示出其潜力。这些分析在不同的研究中表现出不同的性能:我们对 2023 年 1 月 1 日前发表的原始研究进行了系统回顾。方法:我们对 2023 年 1 月 1 日之前发表的原始研究进行了系统综述,纳入了单独评估 ctDNA 以及将其与其他生物标记物结合用于肺癌早期检测的研究:结果:系统综述分析共纳入了 56 项针对肺癌早期检测的原始研究。其中 39 项研究仅针对肺癌,17 项研究针对泛癌症早期检测。不同研究中的癌症病例和对照病例各不相同。对ctDNA的不同分子特征进行了评估,包括7项无细胞DNA浓度研究、17项突变研究、29项甲基化研究、5项羟甲基化研究和8项片段模式研究。在这 56 项研究中,有 17 项研究采用了上述 ctDNA 特征和/或循环蛋白标记物的不同组合。对于所有模式,检测早期癌症的灵敏度都较低:系统综述表明,ctDNA分析可单独或与其他生物标记物联合用于肺癌的早期检测。未来采用标准化检测方案进行验证将有助于将其纳入临床治疗。
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来源期刊
自引率
0.00%
发文量
769
期刊介绍: The Annals of Translational Medicine (Ann Transl Med; ATM; Print ISSN 2305-5839; Online ISSN 2305-5847) is an international, peer-reviewed Open Access journal featuring original and observational investigations in the broad fields of laboratory, clinical, and public health research, aiming to provide practical up-to-date information in significant research from all subspecialties of medicine and to broaden the readers’ vision and horizon from bench to bed and bed to bench. It is published quarterly (April 2013- Dec. 2013), monthly (Jan. 2014 - Feb. 2015), biweekly (March 2015-) and openly distributed worldwide. Annals of Translational Medicine is indexed in PubMed in Sept 2014 and in SCIE in 2018. Specific areas of interest include, but not limited to, multimodality therapy, epidemiology, biomarkers, imaging, biology, pathology, and technical advances related to medicine. Submissions describing preclinical research with potential for application to human disease, and studies describing research obtained from preliminary human experimentation with potential to further the understanding of biological mechanism underlying disease are encouraged. Also warmly welcome are studies describing public health research pertinent to clinic, disease diagnosis and prevention, or healthcare policy.
 With a focus on interdisciplinary academic cooperation, ATM aims to expedite the translation of scientific discovery into new or improved standards of management and health outcomes practice.
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