胶质母细胞瘤与IDH1基因突变的关系

目的:探讨IDH1基因突变在胶质母细胞瘤发生、发展中所起的作用。方法:通过提取肿瘤细胞DNA、设计合成引物、目的片段PCR扩增、DNA直接测序对胶质母细胞瘤患者IDH1基因4号外显子进行筛查,了解IDH1基因突变频率、位置、类型等,分析基因型与临床表型的关系。结果:在57例胶质母细胞瘤标本中总共发现了19例突变,其中原发胶质母细胞瘤4例,继发胶质母细胞瘤15例,儿童胶质母细胞瘤0例,全部为4号外显子132号密码子杂合性、错义、点突变。结论:IDH1基因突变可能是胶质母细胞瘤发生、发展过程中的重要分子事件,原、继发胶质母细胞瘤,成人、儿童胶质母细胞瘤可能起源于不同的分子机制。

Role of IDH1 Gene Mutation in the Genesis of Glioblastoma

Objective: To explore the possible role of IDH1 gene mutation in the genesis and development of human glioblastoma.Methods: Exon 4 of IDH1 gene was screened through polymerase chain reaction and direct DNA sequencing.Results: IDH1 gene mutations were found in 19 out of 57 specimens,and mutation occurs only in primary glioblastoma and second glioblastoma,as 4 and 15 respectively in each.No pediatric glioblastomas was found.All mutations were heterozygous and point mutation,and can only be found in exon 4 codon 132.Conclusion: Heterozygous point mutation of IDH1 gene may play an important role in the genesis of glioblastoma.Primary and secondary glioblastoma may originate differently.Different mechanisms possibly contribute to adult or child glioblastomas.