利用突变特征的基因组表征的潜力，以改善肺癌的早期诊断
Harnessing the potential of genomic characterization of mutational profiles to improve early diagnosis of lung cancer
影响因子:3.60000
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
摘要
肺癌（LC）仍然是全球癌症相关死亡率的主要原因，这在很大程度上是由于其早期阶段的无症状性质以及当前诊断方法的局限性，例如低剂量计算机层析成像（LDCT），通常会导致较晚的诊断，从而迫切需要对创新的诊断限制，从而提高了远处诊断的速度。表征和突变分析以增强早期LC诊断，探索传统诊断方法的当前状态和局限性以及液体活检（LB）的革命性作用，包括通过片段和甲基甲基组学的无细胞DNA（CFDNA）分析。仔细检查了允许早期检测LC的新基因组技术，以及对文献的详细讨论，这些文献塑造了我们在该领域的理解。尽管如此，基因组表征技术的有希望的进步，仍然存在一些挑战，例如LC突变的异质性，LC突变的异质性，高成本，高成本，下一代序列的可访问性（NGS）技术（NGS）技术（NGS）技术。此外，对于解释突变数据的标准化协议非常需要。未来的研究应着重于克服这些障碍，以将这些新型诊断方法整合到标准的临床实践中，从而有可能彻底改变LC患者的管理。
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.