食管鳞状细胞癌线粒体DNA微卫星不稳定性分析

Analysis of Mitochondrial DNA Microsatellite Instability in Esophageal Squamous Cell Carcinoma

[目的]研究食管鳞状细胞癌线粒体DNA微卫星不稳定性特征,探讨线粒体DNA微卫星不稳定性与食管鳞状细胞癌的关系。[方法]用长片段PCR扩增46例食管鳞状细胞癌组织及正常对照组织线粒体DNA,并以此为模板,PCR扩增其控制区D-loop区微卫星位点(C)n序列和(CA)n序列,运用PCR-SSCP方法检测PCR产物微卫星不稳定情况,分析线粒体微卫星不稳定与食管鳞状细胞癌的相互关系。[结果]46例食管鳞状细胞癌中,mtMSI检出率为32.6%(15/46),其中13例于D-loop区(C)n序列检出MSI,5例于D-loop区(CA)n序列检出MSI,于(C)n和(CA)n序列同时检出者3例,正常组织中未检出mtMSI,mtMSI与临床病理参数无关。[结论]线粒体DNAD-loop区(C)n序列微卫星不稳定性在食管鳞癌中是存在的,可能是食管癌发生过程中的早期事件,并可能在食管鳞状细胞癌发生中起重要作用。

[Purpose ] To explore the feature of mitochondrial DNA microsatellite instability（mtMSI） in esophageal squamous cell carcinoma （ESCC） and to investigate the relationship between mtMSI and ESCC. [Methods] The mitochondrial DNA（mtDNA） was amplified by genepha long PCR kit. PCR product was regarded as template. （C）n and （CA）n locus existing in the D-loop zone of template mtDNA were amplified. The PCR product＇s MSI was analyzed by PCR-SSCP technique and the re- lationship between mtMSI and ESCC was analyzed. [Results] mtMSI detection rate was 32.6%（15/ 46） in 46 case of ESCC, among them, 13 cases at （C）n locus of D-loop zone, 5 cases at （CA）n locus, and 3 cases, at both locus （C）n and （CA）n. mtMSI was not discovered in normal tissue. There was no significant relationship between mtMSI and clinicopathologic charecteristics. [Conclusion] The resuits suggest that MSI of mitochondrial D-loop zone （C）n locus exists in ESCC. mtMSI may be an early event and play an important role in carcinogenesis of ESCC.