NK/T细胞淋巴瘤p53和β-catenin基因突变的探讨  

The Study on p53 and β-Catenin Gene Mutations in NK/T Cell Lymphoma

作　　者：何艳姣[1] 贾心善[1] 青世克之[2] 莲井和久[3] 

机构地区：[1]中国医科大学病理学教研室,沈阳市110001 [2]日本大阪大学医学部病理学教室 [3]日本鹿儿岛大学医学部解剖学第二讲座

出　　处：《中国肿瘤临床》2004年第24期1385-1388,共4页Chinese Journal of Clinical Oncology

基　　金：日本学术振兴会基金资助(B(2)12576004)

摘　　要：目的:探讨p53和β-catenin基因在鼻型NK/T细胞淋巴瘤的突变情况。方法:用PCR-SSCP和基因测序的方法检测20例鼻型NK/T细胞淋巴瘤p53基因外显子4～8,β-catenin外显子3的突变情况。结果:8例p53基因发生突变,突变方式主要为错义突变,G:C→A:T转换多见;6例β-catenin基因发生突变,均为错义突变。结论:p53基因突变可能是鼻型NK/T细胞淋巴瘤发生的生物学机制之一,但突变位点并不集中,无明显的突变热点;错义突变是鼻型NK/T细胞淋巴瘤p53和β-catenin基因突变的主要方式。Objective: To discuss mutations of p53 and β-catenin genes in nasal type NK/T cell lymphoma. Methods: Gene mutations of p53 (exons 4 through 8) and β-catenin (exon 3) in 20 cases of nasal type NK/T cell lymphoma were analyzed by polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) and then by direct sequencing. Results: p53 gene mutations were found in 8 of 20 cases (40.0%). The majority was missense mutations and G:C to A:T transition was predominant. The frequency of the β-catenin gene was 6 of 20 cases (30.0%), the mutations were all missense mutations. Conclusions: p53 gene mutations might be one of the biological mechanisms of nasal type NK/T cell lymphoma development, but no obvious mutation hot spots. The predominant mutational pattern of p53 and β-catenin gene in nasal type NK/T cell lymphoma was missense mutation.

关 键 词：NK/T细胞淋巴瘤p53 β-catenin突变 

分 类 号：R733.1[医药卫生—肿瘤]