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目的 探讨肝细胞癌(HCC)微卫星变异的特点及其与临床病理的相关性。方法 应用聚合酶链反应-简单重复序列多态性方法,对56例患者HCC中4号染色体上10个微卫星的杂合性缺失(LOH)、微卫星不稳定性(MSI)和等位基因失衡(AI)3种变异特征进行检测。结果 56例HCC中,LOH的频率为71.4％(40/56),D4S426的LOH率最高为61.0％,其次为D4S1534(53.7％)。D4S406基因座,血清乙型肝炎表面抗原阳性患者的LOH频率高于阴性者[76.9％(20/26)与12.5％(2/16),x~2=13.999,P<0.01];在D4S426、D4S1615和D4S1652基因座,EdmondsonⅢ、Ⅳ级的LOH明显高于Edmondson Ⅰ、Ⅱ级[76.7％(23/30)与18.2％(2/11),x~2=9.242、P<0.01;53.8％(14/26)与16.7％(2/12),P<0.05;60.7％(17/28)与18.2％(2/11),P<0.051;D4S2921基因座,肝内转移者的LOH显著高于无肝内转移者[63.6％(21/33)与18.2％(2/11),x~2=5.132,P<0.05]。MSI的频率为8.9％(5/56);AI的频率为26.8％(15/56)。结论 HCC 4号染色体微卫星变异形式以LOH为主,提示LOH路径在HCC的发生和发展过程中起主要作用,MSI路径的作用次之。
Objective To investigate the characteristics of microsatellite mutation in hepatocellular carcinoma (HCC) and its correlation with clinical pathology. Methods The polymorphisms of LOH, microsatellite instability (MSI) and allele of 10 microsatellites on chromosome 4 of HCC were detected by polymerase chain reaction-simple repeat polymorphism (PCR-SSCP) Imbalance (AI) three kinds of variation characteristics were detected. Results The frequency of LOH was 71.4% (40/56) in 56 cases of HCC. The highest LOH rate of D4S426 was 61.0%, followed by D4S1534 (53.7%). The frequencies of LOH in D4S406 locus and serum HBsAg positive patients were higher than those in negative ones (76.9% (20/26) vs 12.5% (2/16), x ~ 2 = 13.999, P <0.01] The LOH values of Edmondson Ⅲ and Ⅳ were significantly higher than those of Edmondson Ⅰ at grade D4S1615 and D4S1652 (76.7% (23/30) vs 18.2% (2/11), x2 = 9.242, P <0.01; 53.8% P <0.05); 60.7% (17/28) vs 18.2% (2/11), P <0.051; LOH of D4S2921 locus and intrahepatic metastasis was significantly higher than that of D4S2921 Those with no intrahepatic metastasis [63.6% (21/33) vs 18.2% (2/11), x ~ 2 = 5.132, P <0.05]. The frequency of MSI was 8.9% (5/56); the frequency of AI was 26.8% (15/56). Conclusion The LOH polymorphism of microsatellite locus on HCC chromosome 4 suggests that LOH pathway plays a major role in the development and progression of HCC, followed by MSI pathway.