Background

Embryonic stem cell markers, such as SOX2, NANOG, and OCT4, are transcription factors expressed in pluripotent stem cells, involved in the mediation of pluripotency and self-renewal. Especially after the discovery of cancer stem cells, these proteins have been associated with several types of neoplasia, including astrocytomas. In the pediatric population, astrocytomas are the most common solid neoplasia and present the highest mortality rates.

Methods

Our study evaluated 5 polymorphisms in SOX2, NANOG, and POU5F1 genes in 101 pediatric astrocytoma samples.

Results

We describe the associations between wild and polymorphic alleles in astrocytomas.

Conclusions

In our results, the intronic polymorphic G allele in SOX2 rs77677339 [G/A] had a borderline association with low-grade astrocytomas, and the intronic polymorphic T allele in NANOG rs10845877 [C/T] showed a higher frequency in grade 2, compared to grade 1 astrocytomas, thus showing promising results.

Impact

Our study is relevant because it shows a potential correlation between polymorphic embryonic stem cell marker genes and pediatric astrocytomas.

中文翻译：

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小儿星形细胞瘤及其与胚胎干细胞标记基因多态性的关联

背景

胚胎干细胞标志物，如 SOX2、NANOG 和 OCT4，是在多能干细胞中表达的转录因子，参与多能性和自我更新的介导。特别是在发现癌症干细胞之后，这些蛋白质与包括星形细胞瘤在内的几种类型的肿瘤有关。在儿科人群中，星形细胞瘤是最常见的实体瘤，死亡率最高。

方法

我们的研究评估了 101 个儿科星形细胞瘤样本中SOX2、NANOG和POU5F1基因的 5 个多态性。

结果

我们描述了星形细胞瘤中野生和多态等位基因之间的关联。

结论

在我们的研究结果中，SOX2 rs77677339 [G/A] 中的内含子多态性 G 等位基因与低级别星形细胞瘤有临界关联，而NANOG rs10845877 [C/T] 中的内含子多态性 T 等位基因在 2 级显示更高的频率，相比之下1级星形细胞瘤，因此显示出有希望的结果。

影响

我们的研究是相关的，因为它显示了多态性胚胎干细胞标记基因和小儿星形细胞瘤之间的潜在相关性。