Bonosi Lapo, Ferini Gianluca, Giammalva Giuseppe Roberto, Benigno Umberto Emanuele, Porzio Massimiliano, Giovannini Evier Andrea, Musso Sofia, Gerardi Rosa Maria, Brunasso Lara, Costanzo Roberta, Paolini Federica, Graziano Francesca, Scalia Gianluca, Umana Giuseppe Emmanuele, Di Bonaventura Rina, Sturiale Carmelo Lucio, Iacopino Domenico Gerardo, Maugeri Rosario
Neurosurgical Clinic, AOUP "Paolo Giaccone", Post Graduate Residency Program in Neurologic Surgery, Department of Biomedicine Neurosciences and Advanced Diagnostics, School of Medicine, University of Palermo, 90127 Palermo, Italy.
Department of Radiation Oncology, REM Radioterapia srl, 95125 Catania, Italy.
Life (Basel). 2022 Mar 11;12(3):407. doi: 10.3390/life12030407.
Gliomas, particularly high-grade gliomas, represent the most common and aggressive tumors of the CNS and are still burdened by high mortality and a very poor prognosis, regardless of the type of therapy. Their diagnosis and monitoring rely on imaging techniques and direct biopsy of the pathological tissue; however, both procedures have inherent limitations. To address these limitations, liquid biopsies have been proposed in this field. They could represent an innovative tool that could help clinicians in the early diagnosis, monitoring, and prognosis of these tumors. Furthermore, the rapid development of next-generation sequencing (NGS) technologies has led to a significant reduction in sequencing cost, with improved accuracy, providing a molecular profile of cancer and leading to better survival results and less disease burden. This paper focuses on the current clinical application of liquid biopsy in the early diagnosis and prognosis of cancer, introduces NGS-related methods, reviews recent progress, and summarizes challenges and future perspectives.
胶质瘤,尤其是高级别胶质瘤,是中枢神经系统最常见且侵袭性最强的肿瘤,无论采用何种治疗方式,其死亡率仍然很高,预后极差。它们的诊断和监测依赖于成像技术以及病理组织的直接活检;然而,这两种方法都有其固有的局限性。为了解决这些局限性,该领域已提出液体活检。它们可能是一种创新工具,有助于临床医生对这些肿瘤进行早期诊断、监测和预后评估。此外,下一代测序(NGS)技术的快速发展已导致测序成本大幅降低,准确性提高,能够提供癌症的分子图谱,从而带来更好的生存结果和更低的疾病负担。本文重点关注液体活检在癌症早期诊断和预后评估中的当前临床应用,介绍与NGS相关的方法,回顾近期进展,并总结挑战和未来展望。