Department of Dermatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong 250021, China.
Biomed Res Int. 2023 May 9;2023:3754094. doi: 10.1155/2023/3754094. eCollection 2023.
Advances in cancer research have allowed for early diagnosis and improved treatment of cutaneous melanoma (CM). However, its invasiveness and recurrent metastasis, along with rising resistance to newer therapies, have lent urgency to the search for novel biomarkers and the underlying molecular mechanisms of CM.
Single nucleotide polymorphism- (SNP-) related genes were obtained from the sequencing data of 428 CM samples in The Cancer Genome Atlas. Functional enrichment of these genes was analysed in clusterProfiler. Additionally, a protein-protein interaction (PPI) network was constructed with the Search Tool for the Retrieval of Interacting Gene (STRING) database. Gene Expression Profiling Interactive Analysis (GEPIA) was used to identify the expression and prognostic value of mutated genes. Finally, the Tumour Immune Estimation Resource (TIMER) analysed the relationship between gene expression and immune cell infiltration.
We constructed a PPI network from the top 60 SNP-related genes. Mutated genes were mainly involved in calcium and oxytocin signalling pathways, as well as circadian entrainment. In addition, three SNP-related genes, , , and , were significantly associated with patient prognosis. and were positively associated with infiltration abundance of B cells, CD8+ T cells, CD4+ T cells, neutrophils, and dendritic cells, whereas expression was negatively associated. Furthermore, higher immune cell infiltration was positively correlated with good prognosis.
Our study provides vital bioinformatic data and a relevant theoretical basis to further explore the molecular pathogenesis of CM and improve patient prognosis.
癌症研究的进展使得皮肤黑色素瘤（CM）能够早期诊断和改善治疗。然而，其侵袭性和复发性转移，以及对新疗法的耐药性增加，使得寻找新的生物标志物和 CM 的潜在分子机制变得紧迫。
从癌症基因组图谱中 428 个 CM 样本的测序数据中获得单核苷酸多态性（SNP）相关基因。使用 clusterProfiler 分析这些基因的功能富集。此外，使用 Search Tool for the Retrieval of Interacting Gene（STRING）数据库构建蛋白质-蛋白质相互作用（PPI）网络。使用基因表达谱交互分析（GEPIA）来识别突变基因的表达和预后价值。最后，肿瘤免疫估计资源（TIMER）分析了基因表达与免疫细胞浸润之间的关系。
我们从前 60 个 SNP 相关基因构建了一个 PPI 网络。突变基因主要参与钙和催产素信号通路以及昼夜节律调节。此外，三个 SNP 相关基因、、和与患者预后显著相关。和与 B 细胞、CD8+T 细胞、CD4+T 细胞、中性粒细胞和树突状细胞的浸润丰度呈正相关，而的表达与浸润丰度呈负相关。此外，更高的免疫细胞浸润与良好的预后呈正相关。
我们的研究为进一步探讨 CM 的分子发病机制和改善患者预后提供了重要的生物信息学数据和相关理论基础。
