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目的 探讨散发内淋巴囊瘤发病与VHL基因异常之间的关系。方法 采用组织微切割技术和多聚酶链式反应等方法对3例散发内淋巴囊瘤肿瘤细胞VHL基因位点染色体微卫星标志的杂合性丢失进行分析。结果 3例散发内淋巴囊瘤中有2例发生VHL基因位点微卫星标志的杂合性丢失,进一步的研究证实,该两例肿瘤细胞中分别存在着VHL基因第二外显子的异常。结论 VHL基因的异常导致其功能改变不但是VHL的致病原因,而且是散发性内淋巴囊瘤发病的重要的基因遗传学基础。
Objective To investigate the relationship between the pathogenesis of endolymphatic sac tumor and the abnormality of VHL gene. Methods The heterozygous loss of chromosomal microsatellite markers in 3 cases of endolymphocytoma tumor cells were analyzed by tissue microdissection and polymerase chain reaction. Results The loss of heterozygosity of microsatellite markers of VHL locus occurred in 2 cases of endolymphoepithelial neoplasms. The further study confirmed that there were abnormalities of the second exon of VHL gene in these two cases. Conclusion The abnormal function of VHL gene leads to not only the etiological factor of VHL, but also the important genetics basis of sporadic lymphoepithelioma.