Maimonides Biomedical Research Institute of Córdoba (IMIBIC), Cordoba, Spain.
Department of Cell Biology, Physiology, and Immunology, University of Córdoba, Cordoba, Spain.
J Exp Clin Cancer Res. 2023 Oct 26;42(1):282. doi: 10.1186/s13046-023-02858-z.
Pancreatic ductal adenocarcinoma (PDAC) remains one of the most lethal cancers worldwide, mainly due to its late diagnosis and lack of effective therapies, translating into a low 5-year 12% survival rate, despite extensive clinical efforts to improve outcomes. International cooperative studies have provided informative multiomic landscapes of PDAC, but translation of these discoveries into clinical advances are lagging. Likewise, early diagnosis biomarkers and new therapeutic tools are sorely needed to tackle this cancer. The study of poorly explored molecular processes, such as splicing, can provide new tools in this regard. Alternative splicing of pre-RNA allows the generation of multiple RNA variants from a single gene and thereby contributes to fundamental biological processes by finely tuning gene expression. However, alterations in alternative splicing are linked to many diseases, and particularly to cancer, where it can contribute to tumor initiation, progression, metastasis and drug resistance. Splicing defects are increasingly being associated with PDAC, including both mutations or dysregulation of components of the splicing machinery and associated factors, and altered expression of specific relevant gene variants. Such disruptions can be a key element enhancing pancreatic tumor progression or metastasis, while they can also provide suitable tools to identify potential candidate biomarkers and discover new actionable targets. In this review, we aimed to summarize the current information about dysregulation of splicing-related elements and aberrant splicing isoforms in PDAC, and to describe their relationship with the development, progression and/or aggressiveness of this dismal cancer, as well as their potential as therapeutic tools and targets.
胰腺导管腺癌 (PDAC) 仍然是全球最致命的癌症之一,主要原因是其诊断较晚,缺乏有效治疗方法,尽管临床广泛努力改善预后,但 5 年生存率仍仅为 12%。国际合作研究提供了 PDAC 的丰富多组学图谱,但这些发现转化为临床进展的速度较慢。同样,迫切需要早期诊断生物标志物和新的治疗工具来应对这种癌症。研究鲜为人知的分子过程,如剪接,在这方面可以提供新的工具。前 RNA 的可变剪接允许从单个基因产生多个 RNA 变体,从而通过精细调节基因表达为基本的生物过程做出贡献。然而,可变剪接的改变与许多疾病有关,特别是癌症,它可以促进肿瘤的发生、进展、转移和耐药性。剪接缺陷与 PDAC 越来越相关,包括剪接机制和相关因素的突变或失调,以及特定相关基因变体的表达改变。这种破坏可能是增强胰腺肿瘤进展或转移的关键因素,同时也可以为识别潜在的候选生物标志物和发现新的治疗靶点提供合适的工具。在这篇综述中,我们旨在总结与 PDAC 相关的剪接相关元件和异常剪接异构体的失调的最新信息,并描述它们与这种恶性癌症的发展、进展和/或侵袭性的关系,以及它们作为治疗工具和靶点的潜力。