原发性脑瘤的分子遗传学研究进展

［摘要］ 原发性脑瘤是发生于神经系统常见的疾病，高度恶性的胶质瘤占原发性脑瘤的40%，主要分为I型胶质母细胞瘤（继发性胶质母细胞瘤）和II型胶质母细胞瘤（原发性胶质母细胞瘤），二者的产生有着不同的遗传学改变。I型胶质母细胞瘤的产生途径是从一种恶性程度较低的星形细胞瘤（II级，主要为p53基因突变和血小板来源的生长因子/受体过表达）至恶性的间变型星型细胞瘤（III级，主要为Rb基因突变，CDK4基因扩增，9p、11p、13q和19q的等位基因缺失），再到胶质母细胞瘤（IV级，最常见的遗传学改变是7号和20号染色体的获得,10号染色体的丢失以及PTEN和LRRC4基因的缺失，PDGFα及其受体的过表达）的渐进的发展过程；而II型胶质母细胞瘤则是一种没有恶性程度渐进过程的原发性胶质母细胞瘤，表皮生长因子受体基因的扩增是最常见的遗传学改变。

Progression of molecular genetics in primary brain tumor

Primary brain tumor is common in encephalic tumors, and its incidence is increasing in domestic and foreign. Malignant gliomas are the most common primary intracranial malignant tumor, accounting for 40% of primary brain tumors in many series. Two glioblastoma multiformes (GBM) subtypes have been identified, primary GBM and secondary GBM. Secondary GBM was formed from low-grade astrocytoma (grade II, p53 gene mutation and PDGF/R overexpression), pass through malignant anaplastic astrocytoma (grade III, Rb gene mutation, CDK4 amplification and allele loss of 9p, 11p, 13q or 19q) to GBM(grade IV, gain of 7 and 20 chromosome, loss of 10 chromosome, deletion of PTEN or LRRC4, and PDGFα/R overexpression );primary GBM has not distinct malignant progress, EGFR amplication is the mainly genetics change.