Department of Research, Advanced Diagnostics and Technological Innovation, Genomic and Epigenetic Unit, Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Neuropathol Appl Neurobiol. 2021 Jun;47(4):471-487. doi: 10.1111/nan.12691. Epub 2021 Jan 29.
Gliomas are diffusely growing tumours arising from progenitors within the central nervous system. They encompass a range of different molecular types and subtypes, many of which have a well-defined profile of driver mutations, copy number changes and DNA methylation patterns. A majority of gliomas will require surgical intervention to relieve raised intracranial pressure and reduce tumour burden. A proportion of tumours, however, are located in neurologically sensitive areas and a biopsy poses a significant risk of a deficit. A majority of gliomas recur after surgery, and monitoring tumour burden of the recurrence is currently achieved by imaging. However, most imaging modalities have limitations in assessing tumour burden and infiltration into adjacent brain, and sometimes imaging is unable to discriminate between tumour recurrence and pseudo-progression. Liquid biopsies, obtained from body fluids such as cerebrospinal fluid or blood, contain circulating nucleic acids or extracellular vesicles containing tumour-derived components. The studies for this systematic review were selected according to PRISMA criteria, and suggest that the detection of circulating tumour-derived nucleic acids holds great promises as biomarker to aid diagnosis and prognostication by monitoring tumour progression, and thus can be considered a pathway towards personalized medicine.
神经胶质瘤是源自中枢神经系统内祖细胞的弥漫性生长肿瘤。它们包含一系列不同的分子类型和亚型，其中许多具有明确的驱动突变、拷贝数变化和 DNA 甲基化模式特征。大多数神经胶质瘤需要手术干预以减轻颅内压升高和减少肿瘤负担。然而，一部分肿瘤位于神经敏感区域，活检存在明显的缺陷风险。大多数神经胶质瘤在手术后会复发，目前通过影像学监测肿瘤复发的肿瘤负担。然而，大多数影像学方法在评估肿瘤负担和浸润相邻大脑方面存在局限性，有时影像学无法区分肿瘤复发和假性进展。液体活检从脑脊液或血液等体液中获取，其中包含循环核酸或含有肿瘤衍生成分的细胞外囊泡。本系统评价的研究根据 PRISMA 标准进行选择，表明检测循环肿瘤衍生核酸作为生物标志物具有很大的潜力，可通过监测肿瘤进展来辅助诊断和预后，因此可以被认为是通向个体化医疗的途径。
