Mutational analysis of the PTEN gene in soft tissue sarcomas

作     者：Liang Yin Yunzhao chen Wenting Li Benlin Hua Jinfang Jiang Hongan Li Feng Li 

作者机构：Department of Pathology The First Affiliated Hospital of Shihezi University School of Medicine Shihezi 832002China 

出 版 物：《The Chinese-German Journal of Clinical Oncology》 (中德临床肿瘤学杂志（英文版）)

年 卷 期：2010年第9卷第7期

页      面：422-425页

学科分类：0710[理学-生物学] 083002[工学-环境工程] 0830[工学-环境科学与工程（可授工学、理学、农学学位）] 07[理学] 08[工学] 071009[理学-细胞生物学] 09[农学] 0903[农学-农业资源与环境] 0901[农学-作物学] 090102[农学-作物遗传育种] 0713[理学-生态学] 

基　　金：Supported by a grant from the National Natural Science Foundation of China (No. 30560169) 

主　　题：soft tissue sarcomas (STS) PTEN mutation 

摘      要：Objective： This study was to investigate whether PTEN mutations play a role in the carcinogenesis of soft tissue sarcomas （STS）. 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 130th condon G→A missense mutation in the exon 8 of PTEN gene, and this mutation made Arg to change to Gin in PTEN protein structure 334th condon A→T missense mutation in the exon 8 of PTEN gene, and this mutation made Asn to change to Lys in PI-EN protein structure. Conclusion： These data indicated the existence of PTEN mutation in soft tissue sarcomas, but PTEN gene mutation rate is very low. PTEN mutation may prays an less important role in the development and malignant transformation of soft tissue sarcomas.