文章摘要
Hua Yang,Yuxue Wei,Gangli Liu. Gene mutation analysis and immune checkpoint therapy in head and neck squamous cell carcinoma. Oncol Transl Med, 2022, 8: 36-42.
头颈鳞状细胞癌基因突变分析与免疫检查点治疗研究进展
Gene mutation analysis and immune checkpoint therapy in head and neck squamous cell carcinoma
Received:July 08, 2021  Revised:February 21, 2022
DOI:10.1007/s10330-021-0508-8
中文关键词: 头颈鳞状细胞癌,免疫检查点,基因突变
英文关键词: head and neck squamous cell carcinoma (HNSCC); immune checkpoint inhibitor; gene mutation
基金项目:国家自然科学基金
Author NameAffiliationPostcode
Hua Yang Department of Stomatology, The People''''s Hospital of Lanling County 277700
Yuxue Wei Department of Stomatology, The People''''s Hospital of Lanling County 
Gangli Liu* Department of Stomatology, The People''''s Hospital of Lanling County 250012
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中文摘要:
  摘要 以阻断程序性细胞死亡1(Programmed cell death-1, PD-1)为代表的免疫检查点抑制剂,作为新型抗肿瘤免疫治疗的靶向药物之一。近几年被美国食品和药品监督管理局(FDA) 批准用于复发或转移性头颈鳞状细胞癌(head and neck squamous cell carcinoma, HNSCC),为其带来了令人兴奋的治疗前景,但肿瘤基因突变产生的不稳定性严重影响靶向药物的治疗效果。因此,鉴定和探讨HNSCC基因突变可以进一步指导和优化免疫检查点抑制剂(immune checkpoint inhibitor, ICI)在HNSCC临床上的应用。故本文首先阐述ICI疗法在HNSCC临床的研究进展及潜在免疫逃逸机制;其次,运用生物信息学对 TCGA数据库中HNSCC全基因突变结果进行总结;最后,根据突变结果结合ICI治疗最新的研究进展进行相关分子机制阐述与分析,希望可以为HNSCC患者的个性化的治疗方案奠定生物学基础。
英文摘要:
    Immune checkpoint inhibitors (ICI), represented by blocked programmed cell death-1 (PD-1), is a group of novel medicines for anti-tumor immunotherapy. It has been approved by the U.S. Food and Drug Administration (FDA) in recent years for relapsed or metastatic head and neck squamous cell carcinoma (HNSCC), and brings promising treatment prospects. However, the instability caused by tumor gene mutations significantly compromises the therapeutic effect of ICI. Therefore, the identification and analysis of HNSCC gene mutations can further guide and optimize the application of ICIs in HNSCC. In this study, we preliminarily described the clinical research progress of ICI therapy and the potential immune escape mechanism in HNSCC. An overview of complete HNSCC gene mutation results was generated from the bioinformatics study of TCGA database to further explain and analyze the relevant molecular mechanisms, which may aid in designing future personalized therapeutic strategies for HNSCC patients.
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