神经胶质瘤是最难治的癌症类型之一，由于晚期诊断延迟。神经胶质瘤的临床症状尚不清楚，并且由于神经胶质瘤亚型多种多样，现有的低侵入性检测不足以有效地引入常规医学实验室实践。因此，神经胶质瘤临床诊断的最新进展集中在液体活检方法上，这些方法利用了新一代测序 (NGS)、液滴数字聚合酶链反应 (ddPCR) 和定量 PCR (qPCR) 等多种技术。在所有技术中，NGS是最有优势的诊断方法。尽管NGS实验的成本迅速降低，但此类诊断的成本仍然很高。此外，高通量诊断不适合神经胶质瘤的分子分析，因为神经胶质瘤患者仅表现出少数诊断标志物。在这篇综述中，我们重点介绍了所有可用的神经胶质瘤诊断主要致病性神经胶质瘤 DNA 序列改变的检测方法。在本研究中，我们回顾了将常规分子方法整合到神经胶质瘤诊断中的可能性。我们指出，开发一种涵盖所有神经胶质瘤遗传畸变的负担得起的检测方法可以实现早期检测并改善患者的治疗结果。此外，开发此类分子诊断试剂盒可能会成为昂贵的基于 NGS 的方法的良好替代方案。版权所有 © 2023 Penkova、Kuziakova、Gulaia、Tiasto、Goncharov、Lanskikh、Zhmenia、Baklanov、Farniev 和 Kumeiko。

Glioma is one of the most intractable types of cancer, due to delayed diagnosis at advanced stages. The clinical symptoms of glioma are unclear and due to a variety of glioma subtypes, available low-invasive testing is not effective enough to be introduced into routine medical laboratory practice. Therefore, recent advances in the clinical diagnosis of glioma have focused on liquid biopsy approaches that utilize a wide range of techniques such as next-generation sequencing (NGS), droplet-digital polymerase chain reaction (ddPCR), and quantitative PCR (qPCR). Among all techniques, NGS is the most advantageous diagnostic method. Despite the rapid cheapening of NGS experiments, the cost of such diagnostics remains high. Moreover, high-throughput diagnostics are not appropriate for molecular profiling of gliomas since patients with gliomas exhibit only a few diagnostic markers. In this review, we highlighted all available assays for glioma diagnosing for main pathogenic glioma DNA sequence alterations. In the present study, we reviewed the possibility of integrating routine molecular methods into the diagnosis of gliomas. We state that the development of an affordable assay covering all glioma genetic aberrations could enable early detection and improve patient outcomes. Moreover, the development of such molecular diagnostic kits could potentially be a good alternative to expensive NGS-based approaches.Copyright © 2023 Penkova, Kuziakova, Gulaia, Tiasto, Goncharov, Lanskikh, Zhmenia, Baklanov, Farniev and Kumeiko.