MYO5A 35号外显子跳跃对头颈鳞状细胞癌患者的预后相关研究  

Prognostic Correlation Study of MYO5A Exon 35 Skipping in Head and Neck Squamous Cell Carcinoma

作　　者：卢芳 宁彤彤 王婕 赵嘉 房静 宁倩倩 李家锋 LU Fang;NING Tongtong;WANG Jie;ZHAO Jia;FANG Jing;NING Qianqian;LI Jiafeng(School of Stomatology,Xuzhou Medical University,Xuzhou 221004,China;Department of Emergency,Shandong Second Rehabilitation Hospital,Taian 271000,China;Cancer Institute,Xuzhou Medical University,Xuzhou 221004,China;Henan Institute of Science and Technology,Xinxiang 453003,China;Department of Stomatology,Affiliated Hospital of Xuzhou Medical University,Xuzhou 221006,China)

机构地区：[1]徐州医科大学口腔医学院,江苏徐州221004 [2]山东省第二康复医院急诊科,山东泰安271000 [3]徐州医科大学肿瘤研究所,江苏徐州221004 [4]河南科技学院,河南新乡453003 [5]徐州医科大学附属医院口腔科,江苏徐州221006

出　　处：《口腔医学研究》2024年第3期236-241,共6页Journal of Oral Science Research

基　　金：江苏省高等教育自然科学研究项目(编号:22KJB32025);徐州市科学技术局重点研发计划(社会发展)-医药卫生面上项目(编号KC22217)。

摘　　要：目的:探讨MYO5A基因在头颈鳞状细胞癌(head and neck squamous cell carcinoma,HNSCC)中作为预后分子标志物的潜力。方法:从TCGA数据库下载HNSCC队列的RNA-Seq数据及相应的临床数据,单变量Cox回归分析MYO5A与患者预后之间的关系。从TCGA SpliceSeq数据库下载MYO5A基因的可变剪接类型,根据剪接百分比(percent spliced in,PSI)值识别差异性表达的MYO5A基因的可变剪接,并分析其与HNSCC患者预后的相关性。最后通过RT-PCR和Sanger测序在细胞系及徐州医科大学附属医院临床样本中进一步验证。结果:MYO5A基因在HNSCC队列中显著高表达,但MYO5A基因整体表达水平并不能作为独立的HNSCC预后风险指标。MYO5A 35号外显子跳跃在HNSCC中发生频率增加,且与预后密切相关。MYO5A 35号外显子跳跃在细胞系及临床样本中均得到了验证。结论:MYO5A 35号外显子跳跃而不是MYO5A基因整体表达水平可作为HNSCC预后独立的分子标志物。Objective:To explore the potential of MYO5A gene as a prognostic molecular marker in head and neck squamous cell carcinoma(HNSCC).Methods:RNA-Seq data and corresponding clinical data were downloaded from the TCGA database for the HNSCC queue,and the relationship between MYO5A and patient prognosis was analyzed using univariate Cox regression.The variable splicing types of the MYO5A gene were downloaded from the TCGA SpliceSeq database,the variable splicing of the differentially expressed MYO5A gene was identified based on the percentage spliced in(PSI)value,and its correlation with the prognosis of HNSCC patients was analyzed.Finally,RT-PCR and Sanger sequencing were validated in clinical samples from cell lines and affiliated hospitals of Xuzhou Medical University.Results:The MYO5A gene was significantly overexpressed in the HNSCC cohort,but the overall expression level of the MYO5A gene could not be used as an independent prognostic risk indicator for HNSCC.The frequency of MYO5A exon 35 hopping was increased in HNSCC and was closely related to prognosis.The jump of MYO5A exon 35 was validated in both cell lines and clinical samples.Conclusion:The jump of MYO5A exon 35 rather than the overall expression level of MYO5A gene can serve as an independent molecular marker for the prognosis of HNSCC.

关 键 词：MYO5A 头颈鳞状细胞癌 可变剪接 预后 

分 类 号：R739.91[医药卫生—肿瘤]