神经胶质瘤生物标志物研究进展

Advances of glioma biomarkers

摘要:

神经胶质瘤(glioma)是最常见的原发性脑肿瘤，占颅内肿瘤的81%。神经胶质瘤的诊断手段与预后评估主要以影像学为主，但因神经胶质瘤的浸润性生长特点，影像学不能完全作为诊断及预后评估依据。因此，发现和鉴定全新生物标志物对神经胶质瘤的诊断、治疗和预后评估显得尤为重要。最新研究结果表明，在神经胶质瘤患者组织和血液中，多种生物标志物可用于神经胶质瘤的辅助诊断和预后评估。其中，诊断标志物包括IDH1/2基因突变、BRAF基因突变与融合、p53基因突变、端粒酶活性增加、循环肿瘤细胞和非编码RNA等。预后标志物包括1p/19p共缺失、MGMT基因启动子甲基化及基质金属蛋白酶-28、胰岛素样生长因子结合蛋白-2和CD26的表达上调和Smad4的表达下调。本文重点介绍了上述神经胶质瘤生物标志物在诊断和预后评估方面的最新研究进展。

关键词:神经胶质瘤;生物标志物;诊断;预后;IDH1/2基因突变;MGMT基因启动子甲基化

Abstract:

Glioma is the most common primary brain tumor, accounting for 81% of intracranial tumors. The diagnosis and prognosis assessment of glioma are mainly based on imaging. However, imaging cannot be fully used as the basis for diagnosis and prognosis assessment due to the infiltrative growth characteristics of glioma. Therefore, the discovery and identification of novel biomarkers is particularly important for the diagnosis, treatment and prognosis assessment of glioma. The latest findings suggest that a variety of biomarkers in the tissues and blood of glioma patients can be used for the auxiliary diagnosis and prognosis assessment of glioma. Among them, IDH1/2 gene mutation, BRAF gene mutation and fusion, p53 gene mutation, increased telomerase activity, circulating tumor cells and non-coding RNA can be used as diagnostic markers. Prognostic markers include 1p/19p codeletion, MGMT gene promoter methylation, upregulation of matrix metalloproteinase-28, insulin-like growth factor-binding protein-2 and CD26, and downregulation of Smad4. This review highlights the latest advances of biomarkers in the diagnosis and prognosis assessment of glioma.

Key words:glioma;biomarker;diagnosis;prognosis;IDH1/2 gene mutation;MGMT gene promoter methylation