实用肿瘤学杂志 ›› 2023, Vol. 37 ›› Issue (3): 230-235.doi: 10.11904/j.issn.1002-3070.2023.03.006

• 临床研究 • 上一篇    下一篇

基于生物信息学方法分析FAM20A在甲状腺癌中的诊断价值

吴南楠1,2, 尹瑞梨1,2, 孙荣欣1,2, 赵冬1,2   

  1. 1.首都医科大学附属北京潞河医院内分泌代谢与免疫性疾病中心(北京 101149);
    2.糖尿病防治研究北京市重点实验室
  • 收稿日期:2023-03-29 修回日期:2023-05-29 出版日期:2023-06-28 发布日期:2023-08-07
  • 通讯作者: 赵冬,E-mail:zhaodong@ccmu.edu.cn
  • 作者简介:吴南楠,女,(1982-),博士,副主任医师,从事内分泌代谢疾病基础与临床的研究。
  • 基金资助:
    北京市通州区高层次人才发展支持计划(编号:YHLD2019021)

The diagnostic value of FAM20A in thyroid cancer was analyzed based on bioinformatics methods

WU Nannan1,2, YIN Ruili1,2, SUN Rongxin1,2, ZHAO Dong1,2   

  1. 1. Center for Endocrine Metabolism and Immune Diseases,Beijing Luhe Hospital,Capital Medical University,Beijing 101149,China;
    2. Beijing Key Laboratory of Diabetes Research and Care
  • Received:2023-03-29 Revised:2023-05-29 Online:2023-06-28 Published:2023-08-07

摘要: 目的 采用多种生物信息学分析工具和免疫组织化学染色,明确序列相似性20家族成员A(Family with sequence similarity 20 member A,FAM20A)在甲状腺癌(Thyroid carcinoma,TC)中的表达及临床诊断意义。方法 通过癌症基因组图谱(TCGA)数据库获取甲状腺癌相关数据,分析FAM20A在甲状腺癌组织和正常组织之间的表达差异,绘制ROC曲线计算AUC值,评估FAM20A对甲状腺癌的诊断效能。利用GEO数据库下载GSE205733甲状腺癌数据集,分析FAM20A基因在甲状腺癌组织中的表达水平,并进行基因富集分析(Gene set enrichment analysis,GSEA);利用在线数据库STRING分析FAM20A的蛋白相互作用网络。同时收集2022年3月—2023年2月期间于首都医科大学附属北京潞河医院甲状腺外科行甲状腺结节手术的29例患者病理组织样本,进行病理组织石蜡切片和免疫组织化学染色,验证比较甲状腺癌及良性甲状腺结节样本中FAM20A的表达水平。结果 TCGA数据库结果表明,与正常甲状腺组织相比,FAM20A在甲状腺癌组织中的表达显著升高(P<0.001)。FAM20A表达水平与甲状腺癌临床TNM分期和病理分型相关(P<0.05)。FAM20A对于甲状腺癌的诊断效能显著(AUC=0.828)。GSE205733数据分析显示与正常组织相比,FAM20A在甲状腺癌组织中表达显著增加(P<0.001)。GSEA富集分析结果显示FAM20A主要与P53和白介素等信号传导通路相关。STRING数据库分析显示与FAM20A相互作用的蛋白主要有PEAK,FAM20C和ENAM等。免疫组织化学染色结果显示FAM20A在甲状腺癌组织中表达显著增加(P<0.05)。结论 FAM20A基因在甲状腺癌组织中高表达,与患者临床TNM分期和病理分型相关,可作为诊断甲状腺癌的潜在分子标记物,且与P53和白介素等信号传导通路相关,为研究甲状腺癌进展分子机制及靶向药物的开发提供理论依据。

关键词: 生物信息学, FAM20A, 甲状腺癌

Abstract: Objective A variety of bioinformatics analysis tools and immunohistochemical staining were used to investigate the expression and clinical diagnostic significance of sequence similarity 20 family members A(FAM20A)in thyroid cancer(TC). Methods The data related to thyroid cancer were obtained from the Cancer Genome Atlas(TCGA)database,the expressed difference of FAM20A between TC tissues and normal tissues was analyzed,and the ROC curve was drawn to calculate the AUC value and evaluate the diagnostic efficacy of FAM20A in TC.The GSE205733 thyroid cancer dataset was downloaded from the GEO database to analyze the level of FAM20A gene in TC tissues,and perform the gene set enrichment analysis(GSEA).The protein interaction network of FAM20A was analyzed using the online database STRING.At the same time,the pathological tissue samples of 29 patients who underwent thyroid nodule surgery in the department of Thyroid Surgery,Beijing Luhe Hospital affiliated to Capital Medical University from March 2022 to February 2023 were collected,and the pathological tissue paraffin sections and immunohistochemical staining was performed to verify and compare the expression of FAM20A in TC and benign thyroid nodule samples. Results The results of the TCGA database showed that compared with normal thyroid tissues,the expression of FAM20A was significantly increased in TC tissues(P<0.001).The expression of FAM20A was associated with clinical TNM staging and pathological classification of TC(P<0.05).FAM20A showed significant diagnostic efficacy for thyroid carcinoma(AUC=0.828).The analysis of GSE205733 data showed that compared with normal tissues,FAM20A expression significantly increased in TC tissues(P<0.001).The GSEA enrichment analysis results showed that FAM20A was mainly related to signaling pathways such as P53 and interleukin.The STRING database showed that the proteins that interact with FAM20A mainly include PEAK,FAM20C and ENAM.The immunohistochemical staining results showed that the expression of FAM20A was significantly increased in TC tissues(P<0.05). Conclusion The FAM20A gene is highly expressed in TC tissues,and is associated with clinical TNM staging and pathological classification of patients.It can serve as a potential molecular marker for diagnosis of TC and is associated with signaling pathways such as P53 and interleukin,providing a theoretical basis for studying the molecular mechanism of TC progression and the development of targeted drugs.

Key words: Bioinformatics, Family with sequence similarity 20 member A, Thyroid cancer

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