Iseas Soledad, Mariano Golubicki, Gros Louis, Baba-Hamed Nabil, De Parades Vincent, Adam Julien, Raymond Eric, Abba Martin Carlos
Medical Oncology Department, Paris-St Joseph Hospital, 185 rue Raymond Losserand, 75014, Paris, France.
Oncology Unit, Gastroenterology Hospital "Dr. Carlos Bonorino Udaondo", Av. Caseros 2061, C1264, Ciudad Autónoma de Buenos Aires, Argentina.
Mol Diagn Ther. 2024 Mar;28(2):201-214. doi: 10.1007/s40291-023-00692-9. Epub 2024 Jan 24.
Anal squamous cell carcinoma (ASCC) is a rare gastrointestinal malignancy associated with high-risk human papillomavirus (HPV) and is currently one of the fastest-growing causes of cancer incidence and mortality in developed countries. Although next-generation sequencing technologies (NGS) have revolutionized cancer and immuno-genomic research in various tumor types, a limited amount of clinical research has been developed to investigate the expression and the functional characterization of genomic data in ASCC. Herein, we comprehensively assess recent advancements in "omics" research, including a systematic analysis of genome-based studies, aiming to identify the most relevant ASCC cancer driver gene expressions and their associated signaling pathways. We also highlight the most significant biomarkers associated with anal cancer progression, gene expression of potential diagnostic biomarkers, expression of therapeutic drug targets, and emerging treatment opportunities. This review stresses the urgent need for developing target-specific therapies in ASCC. By illuminating the molecular characteristics and drug-target expression in ASCC, this study aims to provide insights for the development of precision medicine in anal cancer.
肛管鳞状细胞癌(ASCC)是一种与高危型人乳头瘤病毒(HPV)相关的罕见胃肠道恶性肿瘤,目前是发达国家癌症发病率和死亡率增长最快的原因之一。尽管下一代测序技术(NGS)彻底改变了各种肿瘤类型的癌症和免疫基因组研究,但针对ASCC基因组数据的表达和功能特征进行研究的临床研究却很有限。在此,我们全面评估了“组学”研究的最新进展,包括对基于基因组研究的系统分析,旨在确定最相关的ASCC癌症驱动基因表达及其相关信号通路。我们还重点介绍了与肛管癌进展相关的最重要生物标志物、潜在诊断生物标志物的基因表达、治疗药物靶点的表达以及新出现的治疗机会。本综述强调了在ASCC中开发靶向特异性疗法的迫切需求。通过阐明ASCC的分子特征和药物靶点表达,本研究旨在为肛管癌精准医学的发展提供见解。