人脑胶质瘤PTEN基因变异的研究

目的进一步了解PTEN基因突变和缺失在人脑胶质瘤发生和恶性进展中的作用。方法应用聚合酶链反应-单链构象多态性(PCR-SSCP)结合银染技术和双重PCR分别检测10例正常脑组织、10例脑膜瘤、80例胶质瘤PTEN基因第5和第8外显子区域上的突变与缺失情况。结果发现10例正常脑组织和10例良性脑膜瘤均无PTEN基因点突变发生,80例胶质瘤分别有11例(13.75%)和27例(33.75%)发生基因点突变和基因缺失,且PTEN基因失活与星形细胞瘤病理分级明显相关(P<0.05),其中高恶性度胶质瘤(III、IV级)突变率(24.44%)和缺失率(60%)明显高于低恶性度(I、II级)胶质瘤(P<0.05)。结论PTEN基因突变或缺失与胶质瘤病理分级关系密切,可能属于胶质瘤恶性进展的后期事件。

PTEN gene alterations in human gliomas

Objective To investigate gene mutations and/or gene deletions of the phosphatase and tensin homolog deleted on chromosome 10(PTEN)gene in human gliomas.Method Exon5and exon8of the PTEN gene in human gliomas were amplified by polymerase chain reaction(PCR)and their mutations were detected by single-strand conformation polymorphism(SSCP)with silver staining.The gliomas were examined for the presence of homozygous deletions of the PTEN gene by differential polymerase chain reaction(PCR).Result Eleven mutations(13.75%)and twenty-seven deletions of the PTEN gene were detected in the80gliomas,while nil was found in the10normal brain samples and the10benign meningiomas.A significant correlation was observed between the PTEN gene mutations and/or deletions and the grade of the gliomas.Conclusion The PTEN gene mutations and/or deletions play a critical role in glioma progression and angiogenesis.The PTEN gene alteration may be a late event in glioma progression.