抑癌基因PTEN突变在软组织肉瘤中的研究

目的本研究探讨软组织肉瘤中PTEN突变及与软组织肉瘤发生发展的相关性。方法应用聚合酶链反应．单链构象多态性分析（PCR．SSCP）方法以及DNA测序技术,扩增86例软组织肉瘤PTEN基因的第5～8外显子,根据构象改变检测其基因突变情况。结果86例软组织肉瘤中检测到2例突变：第8外显子第351位密码子由T→C的错义突变,突变使蛋白结构由苯丙氨酸突变为赖氨酸;第8外显子第334位密码子由A→T的错义突变,突变使蛋白结构由天门冬酰胺突变为赖氨酸。结论软组织肉瘤中存在PTEN抑癌基因的突变,但突变率很低,可能在STSs的发生发展中不起主要作用。

Mutation analysis of tumor suppressor PTEN in Soft tissue sarcomas

Objective This study was to investigate whether PTEN mutations play a role in the carcinogenesis of STSs. Methods Polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP） was used to amplify 4 exons of PTEN and to analyze the conformation polymorphism, then DNA sequencing methods was used to detect .point mutation of PTEN gene four exons of abnormal single strand conformation in Soft tissue sarcomas. Results Two of 86 cases showed 351st condon T→C missense mutation in the exon8 of PTEN gene, and this mutation made Phe to change to Lys in PTEN protein structure. 334th condon A→T missense mutation in the exon8 of PTEN gene, and this mutation made Asn to change to Lys in PTEN protein structure. Conclusions These data indicated the existence of PTEN mutation in Soft tissue sarcomas, but PTEN gene mutation rate is very low. PTEN mutation may play a less important role in the development and malignant transformation of Soft tissue sarcomas.