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

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.