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目的:探讨乳腺癌中NF2基因启动子甲基化状态及其mRNA水平与乳腺癌发病的关系。方法:应用甲基化特异性聚合酶链反应(MSP)和逆转录-聚合酶链反应(RT-PCR)技术,检测47例乳腺癌组织及相应的癌旁组织和15例乳腺良性病变组织,分析NF2基因的甲基化与某些临床参数及mRNA表达的关系。结果:NF2基因启动子区在乳腺癌、癌旁和乳腺良性病变组织中的甲基化频率分别为57.4%(27/47)、23.4%(23/47)和0%(0/15),且乳腺癌组明显高于其余两组(P<0.05)。NF2基因发生甲基化与发病年龄、组织分型、转移和组织分级无相关性。乳腺癌组NF2基因mRNA的相对表达量(0.16±0.11)明显低于相应的癌旁组(0.27±0.14)及乳腺良性病变组(0.64±0.17()P<0.05)。NF2基因启动子区甲基化频率与其mRNA表达呈负相关(Spearman’sr=-0.314,P<0.05)。结论:NF2基因发生甲基化与乳腺癌的发生密切相关,NF2mRNA表达与NF2基因启动子高甲基化呈负相关。
Objective: To investigate the relationship between methylation status of NF2 gene promoter and its mRNA level in breast cancer and the pathogenesis of breast cancer. Methods: 47 cases of breast cancer, corresponding paracancerous tissues and 15 cases of benign breast lesions were detected by methylation specific polymerase chain reaction (MSP) and reverse transcription polymerase chain reaction (RT-PCR) The relationship between methylation of NF2 gene and some clinical parameters and mRNA expression was analyzed. Results: The methylation frequency of NF2 gene promoter region in breast cancer, paracancer and benign breast lesions were 57.4% (27/47), 23.4% (23/47) and 0% (0/15), respectively And breast cancer group was significantly higher than the other two groups (P <0.05). There was no correlation between NF2 gene methylation and age of onset, histological type, metastasis and histological grade. The relative expression level of NF2 mRNA in breast cancer group was significantly lower than that in corresponding adjacent group (0.27 ± 0.14) and benign breast lesions group (0.16 ± 0.11) (0.64 ± 0.17 (P <0.05). The methylation frequency of NF2 gene promoter was negatively correlated with its mRNA expression (Spearman’s = -0.314, P <0.05). Conclusion: The methylation of NF2 gene is closely related to the occurrence of breast cancer. The expression of NF2 mRNA is negatively correlated with hypermethylation of NF2 gene promoter.