Cancer Epigenetics Laboratory, School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.
Department of Cellular Pathology, Southmead Hospital, Bristol, UK.
Neoplasia. 2018 Apr;20(4):335-350. doi: 10.1016/j.neo.2018.01.009. Epub 2018 Mar 3.
Neuroblastoma is one of the commonest and deadliest solid tumours of childhood, and is thought to result from disrupted differentiation of the developing sympathoadrenergic lineage of the neural crest. Neuroblastoma exhibits intra- and intertumoural heterogeneity, with high risk tumours characterised by poor differentiation, which can be attributable to MYCN-mediated repression of genes involved in neuronal differentiation. MYCN is known to co-operate with oncogenic signalling pathways such as Alk, Akt and MEK/ERK signalling, and, together with c-MYC has been shown to be activated by Wnt signalling in various tissues. However, our previous work demonstrated that Wnt3a/Rspo2 treatment of some neuroblastoma cell lines can, paradoxically, decrease c-MYC and MYCN proteins. This prompted us to define the neuroblastoma-specific Wnt3a/Rspo2-driven transcriptome using RNA sequencing, and characterise the accompanying changes in cell biology. Here we report the identification of ninety Wnt target genes, and show that Wnt signalling is upstream of numerous transcription factors and signalling pathways in neuroblastoma. Using live-cell imaging, we show that Wnt signalling can drive differentiation of SK-N-BE(2)-C and SH-SY5Y cell-lines, but, conversely, proliferation of SK-N-AS cells. We show that cell-lines that differentiate show induction of pro-differentiation BMP4 and EPAS1 proteins, which is not apparent in the SK-N-AS cells. In contrast, SK-N-AS cells show increased CCND1, phosphorylated RB and E2F1 in response to Wnt3a/Rspo2, consistent with their proliferative response, and these proteins are not increased in differentiating lines. By meta-analysis of the expression of our 90 genes in primary tumour gene expression databases, we demonstrate discrete expression patterns of our Wnt genes in patient cohorts with different prognosis. Furthermore our analysis reveals interconnectivity within subsets of our Wnt genes, with one subset comprised of novel putative drivers of neuronal differentiation repressed by MYCN. Assessment of β-catenin immunohistochemistry shows high levels of β-catenin in tumours with better differentiation, further supporting a role for canonical Wnt signalling in neuroblastoma differentiation.
神经母细胞瘤是儿童中最常见和最致命的实体肿瘤之一,被认为是由于神经嵴发育中的交感肾上腺素能谱系分化失调所致。神经母细胞瘤表现出肿瘤内和肿瘤间的异质性,高风险肿瘤的特征是分化不良,这可归因于 MYCN 介导的神经元分化相关基因的抑制。已知 MYCN 与 Alk、Akt 和 MEK/ERK 信号等致癌信号通路合作,并且与 c-MYC 一起已被证明在各种组织中被 Wnt 信号激活。然而,我们之前的工作表明,Wnt3a/Rspo2 处理一些神经母细胞瘤细胞系可以相反地降低 c-MYC 和 MYCN 蛋白。这促使我们使用 RNA 测序来定义神经母细胞瘤特异性的 Wnt3a/Rspo2 驱动的转录组,并描述伴随的细胞生物学变化。在这里,我们报告了 90 个 Wnt 靶基因的鉴定,并表明 Wnt 信号在神经母细胞瘤中是许多转录因子和信号通路的上游。通过活细胞成像,我们表明 Wnt 信号可以驱动 SK-N-BE(2)-C 和 SH-SY5Y 细胞系的分化,但相反,SK-N-AS 细胞的增殖。我们表明,分化的细胞系诱导诱导分化的 BMP4 和 EPAS1 蛋白,而在 SK-N-AS 细胞中则不明显。相比之下,SK-N-AS 细胞在响应 Wnt3a/Rspo2 时显示出 CCND1、磷酸化 RB 和 E2F1 的增加,与它们的增殖反应一致,而这些蛋白质在分化的细胞系中没有增加。通过对我们的 90 个基因在原发性肿瘤基因表达数据库中的表达进行荟萃分析,我们证明了我们的 Wnt 基因在具有不同预后的患者群体中具有不同的表达模式。此外,我们的分析揭示了我们的 Wnt 基因亚集中的相互连接性,其中一个亚集由 MYCN 抑制的新型神经元分化潜在驱动子组成。β-连环蛋白免疫组化评估显示,分化较好的肿瘤中β-连环蛋白水平较高,进一步支持经典 Wnt 信号在神经母细胞瘤分化中的作用。