Department of Pediatric Surgery, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Lindwurmstr. 2a, 80337, Munich, Germany.
Institute of Pathology, Ludwig-Maximilians-University Munich, Thalkirchner Str. 36, 80337, Munich, Germany.
Hepatol Int. 2016 Mar;10(2):370-6. doi: 10.1007/s12072-015-9686-1. Epub 2015 Dec 8.
BACKGROUND/PURPOSE OF THE STUDY: Despite tremendous progress in therapy, about 30% of patients with hepatoblastoma still succumb to the disease. Thus, the development of improved therapies as well as the identification of prognostic factors are urgently needed.
In the present study, expression and promoter methylation of the N-myc downstream-regulated gene (NDRG2), a tumor suppressor gene contributing to the regulation of the Wnt signalling pathway, was analysed in 38 hepatoblastoma samples by real-time reverse transcription-PCR and pyrosequencing, respectively.
The NDRG2 gene was highly expressed in normal pediatric liver tissue, but was significantly downregulated in heptoblastoma primary tumors. Detailed methylation analysis of CpG sites in the NDRG2 promoter region revealed a general high degree of DNA methylation in hepatoblastoma, which correlated with the suppression of NDRG2. By analyzing clinicopathological features we could demonstrate a strong association between low NDRG2 expression and tumor metastasis. Importantly, the overall survival analysis by Kaplan-Meier revealed that high NDRG2 expression was correlated with a higher survival rate in hepatoblastoma patients.
Our data show that downregulation of NDRG2 may play an important role in advanced hepatoblastomas.
背景/研究目的:尽管在治疗方面取得了巨大进展,但约 30%的肝母细胞瘤患者仍死于该疾病。因此,迫切需要开发改进的治疗方法以及确定预后因素。
在本研究中,通过实时逆转录-PCR 和焦磷酸测序分别分析了 38 例肝母细胞瘤样本中 N- myc 下游调节基因(NDRG2)的表达和启动子甲基化,NDRG2 是一种肿瘤抑制基因,有助于调节 Wnt 信号通路。
NDRG2 基因在正常儿科肝组织中高表达,但在肝母细胞瘤原代肿瘤中显著下调。对 NDRG2 启动子区域 CpG 位点的详细甲基化分析显示,肝母细胞瘤中存在普遍的高 DNA 甲基化,这与 NDRG2 的抑制有关。通过分析临床病理特征,我们可以证明 NDRG2 低表达与肿瘤转移之间存在很强的相关性。重要的是,Kaplan-Meier 的总生存分析表明,NDRG2 高表达与肝母细胞瘤患者的生存率更高相关。
我们的数据表明,NDRG2 的下调可能在晚期肝母细胞瘤中起重要作用。