眼附属器黏膜相关淋巴组织结外边缘区淋巴瘤A20及TNF基因的遗传学改变

Abstract

目的 检测眼附属器黏膜相关淋巴组织结外边缘区( MALT)淋巴瘤中A20基因及TNF基因数目的变化,为眼附属器MALT淋巴瘤发病机制的研究提供线索.方法 收集原发性眼附属器MALT淋巴瘤石蜡包埋组织标本41例,利用间期荧光原位杂交( FISH)技术,使用商品化6号染色体着丝粒探针及自制位点特异性探针A20和TNF,检测眼附属器MALT淋巴瘤病例中6号染色体、A20以及TNF基因数目的异常.结果 41例样本中,A20杂合性缺失2例(4.88％)；TNF基因多拷贝5例(12.20％),其中3例与6号染色体多体同时存在；无A20缺失与TNF多拷贝同时存在的病例.结论 中国少部分眼附属器MALT淋巴瘤中存在A20基因杂合性缺失及TNF位点多拷贝的遗传学改变,A20的缺失与TNF位点多拷贝无明显相关性.

Objective To investigate the copy number changes of A20 and TNF genes,and determine the contribution of the two genes in the development of ocular adnexal MALT lymphoma.Methods Forty-one cases of archive paraffin-embedded ocular adnexal MALT lymphoma tissues were detected by interphase fluorescence in situ hybridization (FISH) using the commercial chromosome 6 centromere probe (CEP6),and house-made site-specific probe of A20 and TNF. Results Of the 41 ocular adnexal MALT lymphoma cases,loss of heterozygosity (LOH)in A20 locus was detected in 2 cases (4.88 ％).TNF extra copies were found in 5 cases (12.20 ％),of which three cases simultaneously had extra CEP6 signals.No A20 deletion were found coexistence with TNF extra copies in any case.Conclusion A20 gene deletion is present in the small part of ocular adnexal MALT lymphoma, and might contribute to the development of Chinese ocular adnexal MALT lymphoma.A20 deletion is not associated with extra copies of TNF locus.