利用基因组突变谱表征潜力以改善肺癌早期诊断
Harnessing the potential of genomic characterization of mutational profiles to improve early diagnosis of lung cancer
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影响因子:3.6
分区:医学3区 / 病理学3区
发表日期:2024 Sep
作者:
Valerio Gristina, Francesco Pepe, Carlo Genova, Tancredi Didier Bazan Russo, Andrea Gottardo, Gianluca Russo, Lorena Incorvaia, Antonio Galvano, Giuseppe Badalamenti, Viviana Bazan, Giancarlo Troncone, Antonio Russo, Umberto Malapelle
DOI:
10.1080/14737159.2024.2403081
摘要
肺癌（LC）仍然是全球癌症相关死亡的主要原因之一，主要由于其早期无症状特征以及当前诊断方法的局限性，如低剂量CT（LDCT），其常导致晚期诊断，突显出迫切需要创新的微创诊断技术以提高早期检测率。本综述探讨了基因组表征和突变谱分析在提升早期肺癌诊断中的潜力，分析了传统诊断方法的现状与局限，以及液体活检（LB）在此领域的革命性作用，包括通过片段组学（fragmentomics）和甲基组学（methylomics）进行的游离DNA（cfDNA）分析。文中还审视了能够实现早期肺癌检测的新型基因组技术，以及对相关文献的详细讨论，塑造了我们在该领域的理解。尽管基因组表征技术取得了令人鼓舞的进展，但仍面临诸多挑战，如肺癌突变的异质性、高成本以及下一代测序（NGS）技术的有限可及性。此外，亟需制定标准化的突变数据解读流程。未来的研究应着重于克服这些障碍，将这些新型诊断方法整合到临床实践中，从而可能彻底改变肺癌患者的管理方式。
Abstract
Lung Cancer (LC) continues to be a leading cause of cancer-related mortality globally, largely due to the asymptomatic nature of its early stages and the limitations of current diagnostic methods such as Low-Dose Computed Tomography (LDCT), whose often result in late diagnosis, highlighting an urgent need for innovative, minimally invasive diagnostic techniques that can improve early detection rates.This review delves into the potential of genomic characterization and mutational profiling to enhance early LC diagnosis, exploring the current state and limitations of traditional diagnostic approaches and the revolutionary role of Liquid Biopsies (LB), including cell-free DNA (cfDNA) analysis through fragmentomics and methylomics. New genomic technologies that allow for earlier detection of LC are scrutinized, alongside a detailed discussion on the literature that shaped our understanding in this field.Despite the promising advancements in genomic characterization techniques, several challenges remain, such as the heterogeneity of LC mutations, the high cost, and limited accessibility of Next-Generation Sequencing (NGS) technologies. Additionally, there is a critical need of standardized protocols for interpreting mutational data. Future research should focus on overcoming these barriers to integrate these novel diagnostic methods into standard clinical practice, potentially revolutionizing the management of LC patients.