The P2X7 receptor for extracellular ATP is a well-established mediator of tumoral development and progression both in solid cancers and hematological malignancies. The human P2X7 gene is highly polymorphic, and several splice variants of the receptor have been identified in time. P2X7 single-nucleotide polymorphisms (SNPs) have been broadly analyzed by studies relating them to pathologies as different as infectious, inflammatory, nervous, and bone diseases, among which cancer is included. Moreover, in the last years, an increasing number of reports concentrated on P2X7 splice variants’ different roles and their implications in pathological conditions, including oncogenesis. Here, we give an overview of established and recent literature demonstrating a role for human P2X7 gene products in oncological conditions, mainly focusing on current data emerging on P2X7 isoform B and nfP2X7. We explored the role of these and other genetic variants of P2X7 in cancer insurgence, dissemination, and progression, as well as the effect of chemotherapy on isoforms expression. The described literature strongly suggests that P2X7 variants are potential new biomarkers and therapeutical targets in oncological conditions and that their study in carcinogenesis deserves to be further pursued.

中文翻译：

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P2X7癌变变体

细胞外ATP的P2X7受体是实体癌和血液系统恶性肿瘤中公认的肿瘤发展和进展的介质。人P2X7基因是高度多态的，并且已经及时鉴定出该受体的几个剪接变体。通过对P2X7单核苷酸多态性（SNP）的研究，广泛地分析了P2X7单核苷酸多态性（SNP）与感染，炎症，神经和骨骼疾病等不同病理，其中包括癌症。此外，在最近几年中，越来越多的报告集中在P2X7剪接变体的不同作用及其在病理状态（包括肿瘤发生）中的意义。在这里，我们概述了已建立的和最近的文献，这些文献证明了人P2X7基因产物在肿瘤学中的作用，主要关注P2X7亚型B和nfP2X7上的最新数据。我们探讨了P2X7的这些和其他遗传变异在癌症抵抗，传播和进展中的作用，以及化学疗法对亚型表达的影响。所描述的文献有力地表明，P2X7变异体是肿瘤学条件下潜在的新生物标志物和治疗靶标，其在致癌作用方面的研究值得进一步研究。