人脑星形细胞瘤PTEN基因的突变

目的 探讨phosphatase and tensin homolog deleted on chromosome ten (PTEN)基因突变在人星形细胞瘤发生和恶性进展中的作用。方法 应用聚合酶链反应－单链构象多态性结合银染技术检测星形细胞瘤PTEN基因第5外显子区域的突变情况。结果 10例正常脑组织和10例良性脑膜瘤均无点突变发生，62例星形细胞瘤中7例（11．29％）有点突变发生，并且点突变发生与星形细胞瘤病理分级明显相关（P＜0．05），其中高恶性度星形细胞瘤（Ⅲ－Ⅳ级）突变率（18．91％）明显高于低恶性度（Ⅰ－Ⅱ级）星形细胞瘤（P＜0．05）。结论 PTEN基因突变与星形细胞瘤病理分级关系密切，属于星形细胞瘤恶性进展的后期事件。

Mutation Analysis of PTEN Gene in Human Astrocytoma

Objective To investigate the significance of phosphatase and tensin homolog deleted on chromosome ten(PTEN) gene mutations in carcinogenesis and progression of human astrocytoma. Methods The exon 5 of PTEN gene in human astrocytoma was amplified by polymerase chain reaction(PCR),and its mutations was detected by single-strand conformation polymorphism(SSCP) with silver staining. Results There was no PTEN gene mutations found in 10 cases of normal brain samples and 10 cases of benign meningioma,while it was found in 7 out of 62 astrocytomas(11.29%). In human astrocytoma,PTEN gene mutations was related to grade of pathology(P<0.05). The expression of PTEN gene mutations in high malignant(grade Ⅲ,Ⅳ) astrocytoma was significantly higher than those in low malignant(grade Ⅰ,Ⅱ) astrocytoma(P<0.05). Conclusion PTEN gene mutations detected in human astrocytoma indicates that the PTEN gene mutations is obviously correlated to histological grade in astrocytoma. PTEN gene mutations is a late event in astrocytoma carcinogenesis. It plays an important role in progression of astrocytoma.