研究动态
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CACNA1C基因突变作为免疫检查点抑制剂在皮肤切除的黑色素瘤预后预测因子。

CACNA1C mutation as a prognosis predictor of immune checkpoint inhibitor in skin cutaneous melanoma.

发表日期:2023 Aug 16
作者: Yushan Huang, Anqi Lin, Tianqi Gu, Shuang Hou, Jiarong Yao, Peng Luo, Jian Zhang
来源: MEDICINE & SCIENCE IN SPORTS & EXERCISE

摘要:

目的:由于皮肤切除性黑素瘤(SKCM)患者对免疫疗法反应存在差异,迫切需要准确的生物标志物来预测免疫疗法的疗效。方法:本研究采用单变量回归模型和生存分析,研究钙电压门控通道亚单位α1C(CACNA1C)突变状态与接受免疫疗法的SKCM患者的免疫疗效之间的关联。还进行了突变谱、免疫原性、肿瘤微环境和通路富集分析。结果:CACNA1C突变组预后较好,免疫原性更高,内皮细胞浸润较低,抗肿瘤免疫反应通路显著富集,并明显抑制了促肿瘤通路。结论:CACNA1C突变状态有望成为预测黑色素瘤免疫疗法效果的生物标志物。
Aims: There is an urgent need for appropriate biomarkers that can precisely and reliably predict immunotherapy efficacy, as immunotherapy responses can differ in skin cutaneous melanoma (SKCM) patients. Methods: In this study, univariate regression models and survival analysis were used to examine the link between calcium voltage-gated channel subunit alpha 1C (CACNA1C) mutation status and immunotherapy outcome in SKCM patients receiving immunotherapy. Mutational landscape, immunogenicity, tumor microenvironment and pathway-enrichment analyses were also performed. Results: The CACNA1C mutation group had a better prognosis, higher immunogenicity, lower endothelial cell infiltration, significant enrichment of antitumor immune response pathways and significant downregulation of protumor pathways. Conclusion: CACNA1C mutation status is anticipated to be a biomarker for predicting melanoma immunotherapy effectiveness.