Kolenda Tomasz, Guglas Kacper, Stasiak Maciej, Poter Paulina, Kozlowska-Maslon Joanna, Bialas Piotr, Sobocinska Joanna, Janiczek-Polewska Marlena, Mantaj Patrycja, Paszkowska Anna, Cybulski Zefiryn, Teresiak Anna, Kazimierczak Urszula, Przybyla Anna, Mackiewicz Andrzej, Mackiewicz Jacek
Department of Cancer Immunology, Chair of Medical Biotechnology, Poznan University of Medical Sciences, 8 Rokietnicka Street, 60-806 Poznan, Poland.
Department of Diagnostics and Cancer Immunology, Greater Poland Cancer Center, 15 Garbary Street, 61-866 Poznan, Poland.
EXCLI J. 2024 Nov 19;23:1375-1396. doi: 10.17179/excli2024-7719. eCollection 2024.
Cutaneous melanoma is the deadliest form of skin cancer. Despite advancements in treatment, many patients still face poor outcomes. A deeper understanding of the mechanisms involved in melanoma pathogenesis is crucial for improving diagnosis and therapy. Non-coding RNAs, with their extensive regulatory roles, show promise as diagnostic biomarkers. This study focuses on evaluating the pseudogene and its potential role in melanoma. expression was analyzed in normal melanocytes and melanoma cell lines using qRT-PCR. Additionally, TCGA data and online prediction tools were employed to correlate expression levels with clinicopathological features. The relationship between , patient phenotypes, and immune responses was further explored using REACTOME, GSEA, and immune deconvolution analyses. analysis revealed significant upregulation of in melanoma cells. Its expression levels were influenced by mutations and were markedly higher in metastatic compared to primary melanomas. Higher expression was associated with improved patient survival. Furthermore, , , and were identified as interacting with . Dysregulated genes involved in immune signaling pathways were also identified as potential miRNA targets. This is the first study to demonstrate the association of with melanoma. Patients with elevated levels exhibited distinct phenotypes, altered immunological profiles, and improved survival rates. These findings suggest that could serve as a potential biomarker for melanoma.
皮肤黑色素瘤是最致命的皮肤癌形式。尽管治疗取得了进展，但许多患者的预后仍然很差。深入了解黑色素瘤发病机制所涉及的机制对于改善诊断和治疗至关重要。非编码RNA具有广泛的调节作用，有望成为诊断生物标志物。本研究重点评估假基因及其在黑色素瘤中的潜在作用。使用qRT-PCR分析了正常黑素细胞和黑色素瘤细胞系中的表达。此外，利用TCGA数据和在线预测工具将表达水平与临床病理特征相关联。使用REACTOME、GSEA和免疫反卷积分析进一步探讨了、患者表型和免疫反应之间的关系。分析显示黑色素瘤细胞中的明显上调。其表达水平受突变影响，与原发性黑色素瘤相比，转移性黑色素瘤中的表达明显更高。较高的表达与患者生存率提高相关。此外，、和被确定为与相互作用。参与免疫信号通路的失调基因也被确定为潜在的miRNA靶点。这是第一项证明与黑色素瘤相关的研究。水平升高的患者表现出独特的表型、改变的免疫特征和提高的生存率。这些发现表明可作为黑色素瘤的潜在生物标志物。
