Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Brain Tumor Pathol. 2011 Jul;28(3):191-6. doi: 10.1007/s10014-011-0038-0. Epub 2011 Jun 1.
Despite recent advances in the diagnosis and treatment of glioblastomas, patient outcomes for these highly malignant tumors remain poor. Research into the molecular pathology of glioblastoma has uncovered various genetic changes that contribute to malignancy. Some of the identified molecular markers--such as loss of heterozygosity (LOH) on chromosome 1p/19q and chromosome 10, O6-methylguanine methyltransferase promoter hypermethylation, and mutation of isocitrate dehydrogenase-1--may help to predict patient outcomes. Indeed, LOH analysis is an effective approach to classify malignant gliomas. Genome-wide analyses have revealed that the extent and pattern of LOH regions may have important implications for the clinical course of the disease. As the genetic underpinnings of malignant gliomas are complex and varied, careful selection of the methods for genetic analysis in the clinic is important. The fundamental principles of each assay need to be understood to allow careful selection of practically useful methods. This review summarizes recent developments in the molecular analysis of malignant glioma.
尽管胶质母细胞瘤的诊断和治疗取得了一些进展,但这些高度恶性肿瘤的患者预后仍然较差。对胶质母细胞瘤的分子病理学研究揭示了各种导致恶性的遗传变化。一些已确定的分子标志物——如染色体 1p/19q 和染色体 10 的杂合性丢失 (LOH)、O6-甲基鸟嘌呤甲基转移酶启动子超甲基化和异柠檬酸脱氢酶-1 的突变——可能有助于预测患者的预后。事实上,LOH 分析是一种有效的方法来对恶性胶质瘤进行分类。全基因组分析表明,LOH 区域的程度和模式可能对疾病的临床过程具有重要意义。由于恶性胶质瘤的遗传基础复杂多样,因此在临床中选择遗传分析方法时需要谨慎。需要了解每个检测的基本原则,以便谨慎选择实际有用的方法。这篇综述总结了恶性胶质瘤分子分析的最新进展。