侵袭性乳腺癌ASPH基因表达与启动子甲基化的临床意义

目的探讨侵袭性癌（IBC）癌组织中天冬氨酰-β-羟化酶基因(ASPH) mRNA的表达和基因启动子区域甲基化与临床病理参数的关系。方法收集91例IBC患者癌组织与配对的癌旁正常组织（MNT），使用逆转录实时荧光定量PCR（qRT-PCR）技术检测ASPH基因mRNA在组织中的表达，使用甲基化特异性PCR（ＭＳＰ）法检测ASPH基因启动子区CpG 岛甲基化状态，进一步分别分析其表达与乳腺癌临床病理特征的关系。结果在IBC中ASPH mRNA的表达量高于MNT（P<0.001），ASPH mRNA的表达与乳腺癌中的标志物E-cadherin阳性表达有关（r=0.195，P=0.041）。ASPH基因在癌组织与MNT中的启动子甲基化阳性率分别为47.3%（43/91）和89.0%（81/91），差异有统计学意义（P<0.05)。基因启动子甲基化率与E-cadherin和肿瘤大小相关（P<0.05）。结论 ASPH基因的表达及启动子甲基化率可能参与了乳腺癌的发生发展。

英文摘要:

Objective To investigate the expression of mRNA of aspartyl/asparaginyl beta-hydroxylase (ASPH) gene in invasive breast cancer (IBC) and the relationship between methylation of gene promoter and clinicopathological parameters. Methods In 91 cases of breast cancer tissues and matched normal tissues (MNT), mRNA expression of the ASPH gene was detected by reverse transcription of real-time fluorescence quantification PCR and the methylation status of CpG island in the ASPH gene promoter region was detected by methylation specific PCR (MSP).And the relationship between the expression and the clinicopathological features of breast cancer was analyzed. Results The expression of ASPH gene mRNA in IBC was significantly higher than that in MNT (P<0.001).The fold change of ASPH mRNA expression was related to whether E-cadherin was positive (r=0.195,P=0.041).The positive rate of methylation of ASPH gene promoter in breast cancer and MNT was 47.3% (43/91) and 89.0% (81/91). The methylation rate of gene promoter was correlated with E-cadherin and tumor size (P<0.05). Conclusion The mRNA expression and promoter methylation rate of ASPH gene may play a role in the development and progression of breast cancer.

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