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基于免疫特征的黑色素瘤预后评估风险模型的开发与验证

Development and validation of an immune signature-based risk model for prognostic assessment in melanoma.

作者信息

Tao Rui, Ruan Jingjing, Chen Xuejie, Pang Boshi, Li Sicheng, Zhou Shengzhi, Aghayants Sis, Shi Zeqi, Zhu Zhanyong

机构信息

Department of Plastic Surgery, Renmin Hospital of Wuhan University, Wuhan, 430060, Hubei , China.

Department of Burns, Wuhan Third Hospital, Tongren Hospital of Wuhan University, Wuhan, 430061, Hubei, China.

出版信息

Sci Rep. 2025 Mar 17;15(1):9117. doi: 10.1038/s41598-025-90917-0.

Abstract

Melanoma is a highly invasive malignancy with poor prognoses in advanced stages. Developing a risk model that can accurately assess prognosis and guide personalized treatment is crucial for improving the clinical management of melanoma. This study aims to develop and validate an immune-based prognostic risk model for melanoma through comprehensive bioinformatics analysis. We collected transcriptomic data from multiple public databases and identified 9 immune features significantly associated with prognosis using single-sample Gene Set Enrichment Analysis (ssGSEA) and Cox regression. These features were utilized to construct the risk model, which was subsequently validated using relevant bulk transcriptomic datasets and single-cell transcriptomic datasets from the GEO database, encompassing diverse patient populations and sample types. The model effectively stratified patients into high-risk and low-risk groups with distinct survival outcomes. Further analysis revealed significant associations between the risk model and genomic heterogeneity indicators, such as tumor mutational burden (TMB), loss of heterozygosity (LOH), and immune checkpoint gene expression. The model robustness was confirmed using single-cell transcriptomic data, highlighting key genes with potential therapeutic relevance. Our findings provide a reliable prognostic tool and novel insights for personalized melanoma treatment, emphasizing the need for further clinical validation.

摘要

黑色素瘤是一种侵袭性很强的恶性肿瘤,晚期预后较差。开发一种能够准确评估预后并指导个性化治疗的风险模型对于改善黑色素瘤的临床管理至关重要。本研究旨在通过全面的生物信息学分析,开发并验证一种基于免疫的黑色素瘤预后风险模型。我们从多个公共数据库收集转录组数据,并使用单样本基因集富集分析(ssGSEA)和Cox回归确定了9个与预后显著相关的免疫特征。利用这些特征构建风险模型,随后使用来自GEO数据库的相关批量转录组数据集和单细胞转录组数据集进行验证,这些数据集涵盖了不同的患者群体和样本类型。该模型有效地将患者分为高风险和低风险组,两组具有不同的生存结果。进一步分析揭示了风险模型与基因组异质性指标之间的显著关联,如肿瘤突变负担(TMB)、杂合性缺失(LOH)和免疫检查点基因表达。使用单细胞转录组数据证实了模型的稳健性,突出了具有潜在治疗相关性的关键基因。我们的研究结果为个性化黑色素瘤治疗提供了可靠的预后工具和新见解,强调了进一步临床验证的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77aa/11914537/2a1fcb7e7696/41598_2025_90917_Fig1_HTML.jpg

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