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目的:探索表皮生长因子受体(EGFR)基因扩增及10号染色体杂合性丢失(LOH10)与胶质瘤发生、发展的关系。方法:采用Southern印迹杂交和RFLP方法对55例各种类型的脑胶质瘤的EGFR基因扩增和10号染色体杂合性丢失情况进行检测分析。结果:17例Ⅲ—Ⅳ级恶性星型细胞肿瘤中的7例(7/17),1例髓母细胞瘤(1/10),1例极性成胶质细胞瘤(1/5)和1例室管膜母细胞瘤,存在EGFR基因的扩增和/或重排。6例Ⅲ—Ⅳ级高恶性星型细胞肿瘤(6/17)和1例髓母细胞瘤(1/10)存在10号染色体的丢失。15例Ⅰ—Ⅱ级星型细胞肿瘤和7例室管膜瘤中未见EGFR扩增和10号染色体丢失。结论:EGFR基因扩增和10号染色体丢失在各种级别的胶质瘤中的分布是非随机的,这两种遗传改变的概率随着恶性程度的增加而增大,提示EGFR基因扩增(或重排)和10号染色体的丢失与恶性胶质瘤的发展相关。
Objective: To explore the relationship between the amplification of epidermal growth factor receptor (EGFR) gene and the loss of heterozygosity (LOH10) on chromosome 10 and the occurrence and development of glioma. Methods: Southern blotting and RFLP were used to detect the amplification of EGFR gene and loss of heterozygosity on chromosome 10 in 55 cases of various types of gliomas. Results Seven cases (7/17), one case of medulloblastoma (1/10), one case of glioblastoma glioblastoma (1/5) and seven cases of malignant astrocytoma One case of ependymoma has the presence of EGFR gene amplification and / or rearrangement. Six cases of grade III-IV malignant astrocytoma (6/17) and one case of medulloblastoma (1/10) had the loss of chromosome 10. No EGFR amplification and chromosome 10 loss were found in 15 grade Ⅰ-Ⅱ astrocytic tumors and 7 ependymomas. CONCLUSIONS: The distribution of EGFR gene amplification and loss of chromosome 10 in various grades of gliomas is nonrandomized, and the probability of these two genetic alterations increases with increasing malignancy, suggesting that EGFR gene amplification (or Rearrangement) and the loss of chromosome 10 are associated with the development of malignant gliomas.