BackgroundWilms’ tumor is an embryonal neoplasm of the kidney that accounts for approximately 6 % of all childhood tumors. The chemokine CXCL12 (C-X-C chemokine ligand 12) and its ligand CXCR4 (C-X-C chemokine receptor type 4) are involved in the development of several organs, including the kidney, and are also associated with tumor growth and metastasis. FOXP3 (forkhead transcription factor 3) was initially described as a marker for regulatory T cells; however, its expression in several types of tumor cells has already been described and may have prognostic significance. The aim of the present study was to analyze rs3761548 and rs2232365 FOXP3 polymorphisms, as well as evaluate rs1801157 CXCL12 polymorphism in Wilms’ tumor samples.MethodsPolymorphisms were evaluated in 32 patients and 78 neoplasia-free controls. Genotypes of rs1801157 were determined using PCR-restriction fragment length polymorphism (PCR-RFLP) method, and genotypes of rs2232365 and rs3761548 were determined using allele-specific PCR (AS-PCR).ResultsThe case-control study indicated a significant association for allele A carriers of rs1801157 polymorphism in relation to Wilms’ tumor susceptibility (OR = 5.261; 95 % CI 2.156 to 12.84; p = 0.0002). The opposite was observed in male carriers of G allele for rs2232365 polymorphism (OR 0.1164; 95 % CI 0.0227 to 0.5954; p = 0.0091) or when male and female subjects were analyzed (OR = 0.1304; 95 % CI 0.05013 to 0.3394; p < 0.0001).ConclusionsAll in all, these markers may contribute to this neoplasia susceptibility and progression; however, further studies are needed to real clarify their role in Wilms’ tumor pathogenesis.

中文翻译：

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肾母细胞瘤易感性：可能涉及 FOXP3 和 CXCL12 基因


背景维尔姆斯氏瘤是一种肾脏胚胎性肿瘤，约占所有儿童肿瘤的 6%。趋化因子CXCL12（CXC趋化因子配体12）及其配体CXCR4（CXC趋化因子受体4型）参与包括肾脏在内的多个器官的发育，并且还与肿瘤生长和转移相关。 FOXP3（叉头转录因子 3）最初被描述为调节性 T 细胞的标记物；然而，它在几种类型的肿瘤细胞中的表达已经被描述，并且可能具有预后意义。本研究的目的是分析Wilms肿瘤样本中rs3761548和rs2232365 FOXP3多态性，并评估rs1801157 CXCL12多态性。方法对32名患者和78名无瘤对照进行多态性评估。使用PCR-限制性片段长度多态性（PCR-RFLP）方法测定rs1801157的基因型，使用等位基因特异性PCR（AS-PCR）测定rs2232365和rs3761548的基因型。结果病例对照研究表明等位基因A显着相关rs1801157 多态性携带者与肾母细胞瘤易感性相关（OR = 5.261；95% CI 2.156 至 12.84；p = 0.0002）。在 rs2232365 多态性 G 等位基因的男性携带者中观察到相反的情况（OR 0.1164；95% CI 0.0227 至 0.5954；p = 0.0091），或者当分析男性和女性受试者时（OR = 0.1304；95% CI 0.05013 至 0.3394；p %） 3C 0.0001)。结论总而言之，这些标志物可能有助于这种肿瘤的易感性和进展；然而，需要进一步的研究来真正阐明它们在肾母细胞瘤发病机制中的作用。