循环肿瘤DNA在脑胶质瘤中的研究进展

摘要: 脑胶质瘤是脑内最常见的原发性恶性肿瘤，包括多种亚型，预后各异。其病变部位特殊，手术切除较困难，后续治疗方法极为有限。在精准医疗时代，发现肿瘤驱动基因或驱动突变、鉴定其特殊DNA突变模式已成为现代肿瘤学研究的重点和难点。常规肿瘤组织活检仅提供了单一部位、单一时间的肿瘤细胞信息，不能充分描述肿瘤基因组异质性及其动态变化的全景特征。循环肿瘤DNA（circulating tumor DNA，ctDNA）监测以非侵入性的方式连续观察肿瘤基因组的变化，为癌症诊断、治疗反应和预后判断提供有价值的生物标志物。本文回顾ctDNA在脑胶质瘤中的研究进展，对其检测方法及在早期诊断、反映肿瘤突变负荷、监测疗效和反映肿瘤细胞的异质性等方面的研究进行系统综述。
- 循环肿瘤DNA /
- 脑胶质瘤 /
- 肿瘤突变负荷 /
- 疗效监测 /
- 肿瘤异质性
Abstract: Gliomas, the most common type of primary brain tumor, have various subtypes and a wide range of prognoses. They are difficult to safely surgically resect and have limited treatment options owing to their awkward location. In the era of precision medicine, identifying tumor driver genes or driver mutations and analyzing specific DNA mutation patterns are key to therapy for difficultto-treat cancers. Tumor biopsies reveal results from a single site at a single time point and therefore may be inadequate for characterizing the heterogeneity and dynamic evolution of the genomic landscape. In contrast, circulating tumor DNA (ctDNA) can be used to noninvasively monitor tumor genomes and provide accessible genetic biomarkers for diagnosing cancer, monitoring response to therapy, and providing a prognosis. This study evaluated the research progress on ctDNA in gliomas and systematically reviewed the following topics: ctDNA detection methods, ctDNA as a reflection of the heterogeneity of tumors, the use of ctDNA for early diagnosis, and the use of ctDNA for monitoring tumor mutation burden and response to treatment.
- circulating tumor DNA (ctDNA) /
- gliomas /
- tumor mutation burden /
- treatment monitoring /
- tumor heterogeneity

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表 1 ctDNA检测常用的检测方法

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