Pathology Unit, Department of Medical Sciences, University of Turin, Torino, Italy.
Pathology Unit, Città della Salute e della Scienza University Hospital, Turin, Torino, Italy.
Neuropathol Appl Neurobiol. 2019 Dec;45(7):655-670. doi: 10.1111/nan.12553. Epub 2019 May 14.
Tumour molecular profiling by liquid biopsy is being investigated for a wide range of research and clinical purposes. The possibility of repeatedly interrogating the tumour profile using minimally invasive procedures is helping to understand spatial and temporal tumour heterogeneity, and to shed a light on mechanisms of resistance to targeted therapies. Moreover, this approach has been already implemented in clinical practice to address specific decisions regarding patients' follow-up and therapeutic management. For central nervous system (CNS) tumours, molecular profiling is particularly relevant for the proper characterization of primary neoplasms, while CNS metastases can significantly diverge from primary disease or extra-CNS metastases, thus compelling a dedicated assessment. Based on these considerations, effective liquid biopsy tools for CNS tumours are highly warranted and a significant amount of data have been accrued over the last few years. These results have shown that liquid biopsy can provide clinically meaningful information about both primary and metastatic CNS tumours, but specific considerations must be taken into account, for example, when choosing the source of liquid biopsy. Nevertheless, this approach is especially attractive for CNS tumours, as repeated tumour sampling is not feasible. The aim of our review was to thoroughly report the state-of-the-art regarding the opportunities and challenges posed by liquid biopsy in both primary and secondary CNS tumours.
液体活检正在为广泛的研究和临床目的进行肿瘤分子分析。通过微创程序反复检测肿瘤特征的可能性有助于了解肿瘤的空间和时间异质性，并揭示靶向治疗耐药的机制。此外，这种方法已经在临床实践中实施，以解决患者随访和治疗管理的具体决策。对于中枢神经系统 (CNS) 肿瘤，分子分析对于正确描述原发性肿瘤尤为重要，而 CNS 转移瘤与原发性疾病或 CNS 外转移瘤有很大的不同，因此需要专门的评估。基于这些考虑因素，针对 CNS 肿瘤的有效液体活检工具是非常必要的，并且在过去几年中已经积累了大量的数据。这些结果表明，液体活检可以为原发性和转移性 CNS 肿瘤提供具有临床意义的信息，但必须考虑到具体的注意事项，例如在选择液体活检来源时。然而，这种方法对于 CNS 肿瘤尤其有吸引力，因为重复肿瘤取样是不可行的。我们的综述旨在全面报告液体活检在原发性和继发性 CNS 肿瘤中所带来的机遇和挑战的最新进展。
