散发内淋巴囊瘤VHL基因位点微卫星标志杂合性丢失的研究

Loss of Heterozygosity of Microsatellite Markers for VHL Gene in Sporadic Endolymphatic Sac tumors

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 pathogenesis of sporadic endolymphatic sac tumor (ELST) and von Hippel - Lindau (VHL) gene aberration Methods Tisssue microdissection technique was used to procure tumor, and normal tissue DNA, and polymerase chain reaction (PCR) was adopted to amplify the chromosome microsatellite makers for VHL gene locus to observe the loss of heterozygosity (LOH) of these markers. Results Two out of 3 sporadic ELSTs exhibited LOH on microsatellite marker for VHL gene locus. Further investigation on exon 1 and 2 of VHL gene showed abnormalities of exon2 in two patients whose tumors demonstrated LOH of VHL gene locus. Conclusion VHL gene aberration is not only responsible for the pathogenesis of VHL disease, but also an important pathogenetic basis for sporadic ELST.