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用于神经胶质瘤诊断的液体活检分析进展

Advances on Liquid Biopsy Analysis for Glioma Diagnosis.

作者信息

Skouras Panagiotis, Markouli Mariam, Kalamatianos Theodosis, Stranjalis George, Korkolopoulou Penelope, Piperi Christina

机构信息

Department of Biological Chemistry, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.

1st Department of Neurosurgery, Evangelismos Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.

出版信息

Biomedicines. 2023 Aug 24;11(9):2371. doi: 10.3390/biomedicines11092371.

Abstract

Gliomas comprise the most frequent primary central nervous system (CNS) tumors, characterized by remarkable genetic and epigenetic heterogeneity, difficulty in monitoring, and increased relapse and mortality rates. Tissue biopsy is an established method of tumor cell collection and analysis that enables diagnosis, classification of different tumor types, and prediction of prognosis upon confirmation of tumor's location for surgical removal. However, it is an invasive and often challenging procedure that cannot be used for frequent patient screening, detection of mutations, disease monitoring, or resistance to therapy. To this end, the minimally invasive procedure of liquid biopsy has emerged, allowing effortless tumor sampling and enabling continuous monitoring. It is considered a novel preferable way to obtain faster data on potential tumor risk, personalized diagnosis, prognosis, and recurrence evaluation. The purpose of this review is to describe the advances on liquid biopsy for glioma diagnosis and management, indicating several biomarkers that can be utilized to analyze tumor characteristics, such as cell-free DNA (cfDNA), cell-free RNA (cfRNA), circulating proteins, circulating tumor cells (CTCs), and exosomes. It further addresses the benefit of combining liquid biopsy with radiogenomics to facilitate early and accurate diagnoses, enable precise prognostic assessments, and facilitate real-time disease monitoring, aiming towards more optimal treatment decisions.

摘要

神经胶质瘤是最常见的原发性中枢神经系统(CNS)肿瘤,其特点是具有显著的遗传和表观遗传异质性、监测困难以及复发率和死亡率增加。组织活检是一种既定的肿瘤细胞采集和分析方法,能够在确定肿瘤位置以进行手术切除后进行诊断、对不同肿瘤类型进行分类以及预测预后。然而,这是一种侵入性且通常具有挑战性的操作,不能用于频繁的患者筛查、突变检测、疾病监测或治疗耐药性检测。为此,液体活检这种微创方法应运而生,它允许轻松采集肿瘤样本并实现持续监测。它被认为是一种新颖的优选方法,可更快地获取有关潜在肿瘤风险、个性化诊断、预后和复发评估的数据。本综述的目的是描述液体活检在神经胶质瘤诊断和管理方面的进展,指出几种可用于分析肿瘤特征的生物标志物,如游离DNA(cfDNA)、游离RNA(cfRNA)、循环蛋白、循环肿瘤细胞(CTC)和外泌体。它还进一步探讨了将液体活检与放射基因组学相结合的益处,以促进早期准确诊断、实现精确的预后评估并便于实时疾病监测,旨在做出更优化的治疗决策。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e49e/10525418/3705756fff2e/biomedicines-11-02371-g001.jpg

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