Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, Ohio, U.S.A.
Epilepsia. 2013 Dec;54 Suppl 9(0 9):25-9. doi: 10.1111/epi.12439.
Gene markers or biomarkers can be used for diagnostic or prognostic purposes for all different types of complex disease, including brain tumors. Prognostic markers can be useful to explain differences not only in overall survival but also in response to treatment and for development of targeted therapies. Multiple genes with specific types of alterations have now been identified that are associated with improved response to chemotherapy and radiotherapy, such as O(6)-methylguanine methyltranferase (MGMT) or loss of chromosomes 1p and/or 19q. Other alterations have been identified that are associated with improved overall survival, such as mutations in isocitrate dehydrogenase 1 (IDH1) and/or isocitrate dehydrogenase 2 (IDH2) or having the glioma CpG island DNA methylator phenotype (G-CIMP). There are many biomarkers that may have relevance in brain tumor-associated epilepsy that do not respond to treatment. Given the rapidly changing landscape of high throughput "omics" technologies, there is significant potential for gaining further knowledge via integration of multiple different types of high genome-wide data. This knowledge can be translated into improved therapies and clinical outcomes for patients with brain tumors.
基因标志物或生物标志物可用于诊断或预测所有不同类型的复杂疾病，包括脑肿瘤。预后标志物不仅有助于解释总生存率的差异，还可解释对治疗的反应和靶向治疗的发展。现已发现多种具有特定类型改变的基因与对化疗和放疗的反应改善相关，如 O(6)-甲基鸟嘌呤甲基转移酶 (MGMT) 或染色体 1p 和/或 19q 的缺失。还发现了其他与总生存率改善相关的改变，如异柠檬酸脱氢酶 1 (IDH1) 和/或异柠檬酸脱氢酶 2 (IDH2) 的突变或具有神经胶质瘤 CpG 岛 DNA 甲基化表型 (G-CIMP)。有许多生物标志物可能与对治疗无反应的脑肿瘤相关癫痫有关。鉴于高通量“组学”技术的快速发展，通过整合多种不同类型的全基因组数据，有可能获得更多的知识。这些知识可以转化为改善脑肿瘤患者的治疗效果和临床结果。
