Notch1在外周T细胞淋巴瘤中的表达及基因突变及其与临床生存期的相关性研究

Association between Clinical Survival Time and the Expression of the Notch1 and the Mutation of the NOTCH1 in PTCL

目的:检测活化型notch1(NICD)蛋白在外周T细胞淋巴瘤组织中的表达情况,探讨活化型notch1对外周T细胞淋巴瘤患者生存时间的影响,分析其与NOTCH1基因突变之间的关系。方法:免疫组织化学法检测20例外周T细胞淋巴瘤(13例PTCLNOS、7例ALCL)及5例反应性增生患者病变组织活化型notch 1(NICD)抗体的表达,PCR-SSCP及基因测序法分析NOTCH1基因HD-N、HD-C、TAD、PEST片段的突变情况。结果:20例外周T细胞淋巴瘤NICD蛋白均为阳性,5例慢性淋巴结炎均为阴性,其中PTCL NOS组织较ALCL高表达NICD蛋白。淋巴瘤患者HD-N、HD-C、PEST片段存在基因点突变。结论:NOTCH1基因点突变可能为异常表达NICD的原因之一,异常表达的NICD影响外周T细胞淋巴瘤的生存时间。

Objective： To investigate the expression of the activated notch1（NICD） protein in PTCL,and its relationship with the NOTCH1 gene mutated and the clinical survival time.Methods： Immunohistochemistry was used to detect the protein expression of the activated notch1（NICD） in 20 specimens PECL（13 specimens PTCL NOS and 7 specimens ALCL） and 5 specimens chronic lymphadenitis as control.PCR-SSCP and gene sequence analysis were used to analyze the NOTCH1 gene mutations in the HD-C,HD-N,TAD and PEST domains.Results： Compared with that in the control,all 20 specimens PTCL were positive for the activated notch1（NICD） protein,and the lever of the expression of NICD was higher in PTCL NOS than that in the ALCL.HD-N,HD-C,PEST domains exist point mutation.Conclusion： NOTCH1 gene mutation may cause the expression of NICD,and the express of the NICD can affact the surivival time of the PTCL patains.