[1]李 松,李瑞杰,赵小磊.CDKN2A基因突变与肾细胞癌药物敏感性和预后的关系[J].医学信息,2022,35(16):1-6.[doi:10.3969/j.issn.1006-1959.2022.16.001]
 LI Song,LI Rui-jie,ZHAO Xiao-lei.Relationship Between CDKN2A Gene Mutation and Drug Sensitivity and Prognosis of Renal Cell Carcinoma[J].Journal of Medical Information,2022,35(16):1-6.[doi:10.3969/j.issn.1006-1959.2022.16.001]
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CDKN2A基因突变与肾细胞癌药物敏感性和预后的关系()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
35卷
期数:
2022年16期
页码:
1-6
栏目:
生物信息学
出版日期:
2022-08-15

文章信息/Info

Title:
Relationship Between CDKN2A Gene Mutation and Drug Sensitivity and Prognosis of Renal Cell Carcinoma
文章编号:
1006-1959(2022)16-0001-06
作者:
李 松李瑞杰赵小磊
(1.河南大学淮河医院泌尿外科,河南 开封 475000;2.郑州市第二人民医院综合科,河南 郑州 450000)
Author(s):
LI SongLI Rui-jieZHAO Xiao-lei
(1.Department of Urology,Huaihe hospital,Henan University,Kaifeng 475000,Henan,China;2.Department of General Medicine,Zhengzhou Second People’s Hospital,Zhengzhou 450000,Henan,China)
关键词:
肾透明细胞癌TCGACDKN2A药物敏感性
Keywords:
Kidney renal clear cell carcinomaTCGACDKN2ADrug sensitivity
分类号:
R737.11
DOI:
10.3969/j.issn.1006-1959.2022.16.001
文献标志码:
A
摘要:
目的 明确CDKN2A突变状态对肾癌进展机制及药物敏感性的影响。方法 使用开源网络工具cBioPortal分析肾癌患者CDKN2A突变类型、频率及生存状况(总体生存和无疾病生存),采用GDSC平台绘制关于CDKN2A的药物敏感火山图和散点图,基因集富集分析(GSEA)评估预定义基因集中的基因分布,绘制差异表达基因(DEGs)和DEGs火山图。结果 TCGA数据显示,5.00%的肾细胞癌存在CDKN2A突变,CDKN2A突变的肾细胞癌患者总体生存率和无病生存率较差;CDKN2A突变可能会增加对Tenovin-6等药物的耐药性,这在各种肿瘤和肾细胞癌中的野生型具有显著的选择性。GO和KEGG分析显示,DEGs在与细胞分裂和多种代谢进展相关的通路中富集。结论 多个基因和通路途径可能在CDKN2A突变中起关键作用。
Abstract:
Objective To clarify the effect of CDKN2A mutation status on the progression mechanism and drug sensitivity of renal cell carcinoma.Methods The open source network tool cBioPortal was used to analyze the mutation type, frequency and survival status (overall survival and disease-free survival) of CDKN2A in patients with renal cell carcinoma. The GDSC platform was used to draw the drug-sensitive volcano map and scatter plot of CDKN2A. The gene set enrichment analysis (GSEA) was used to evaluate the gene distribution in the predefined gene set, and the differentially expressed genes (DEGs) and DEGs volcano map were drawn.Results TCGA data showed that 5.00 % of renal cell carcinoma had CDKN2A mutation, and the overall survival and disease-free survival of patients with CDKN2A mutation were poor. CDKN2A mutations might increase resistance to drugs such as Tenovin-6, which was significantly selective for wild-type in various tumors and renal cell carcinoma. GO and KEGG analysis showed that DEGs were enriched in pathways associated with cell division and multiple metabolic processes.Conclusion Multiple genes and pathways may play a key role in CDKN2A mutation.

参考文献/References:

[1]Chen W,Zheng R,Baade PD,et al.Cancer statistics in China, 2015[J].CA Cancer J Clin,2016,66(2):115-132. [2]Su D,Singer EA,Srinivasan R.Molecular pathways in renal cell carcinoma: recent advances in genetics and molecular biology[J].Curr Opin Oncol,2015,27(3):217-223.[3]Ljungberg B,Bensalah K,Canfield S,et al.EAU guidelines on renal cell carcinoma: 2014 update[J].Eur Urol,2015,67(5):913-924.[4]Kamal Y,Cheng C,Frost HR,et al.Predictors of disease aggressiveness influence outcome from immunotherapy treatment in renal clear cell carcinoma[J].Oncoimmunology,2018,8(1):e1500106.[5]Xu J,Li N,Deng W,et al.Discovering the mechanism and involvement of the methylation of cyclin-dependent kinase inhibitor 2A (CDKN2A) gene and its special locus region in gastric cancer[J].Bioengineered,2021,12(1):1286-1298.[6]Hayashi T,Shibata T,Nakamura M,et al.MAFK Polymorphisms Located in 3’-UTR are Associated with Severity of Atrophy and CDKN2A Methylation Status in the Gastric Mucosa[J].Genet Test Mol Biomarkers,2021,25(4):255-262. [7]Wang L,Xu L,Wang Y.Huaier Inhibits Proliferation, Migration, and Invasion of Cutaneous Squamous Cell Carcinoma Cells by Inhibiting the Methylation Levels of CDKN2A and TP53[J].Integr Cancer Ther,2021,20:15347354211031646.[8]Sumida K,Han Z,Dashputre AA,et al.Association between Nrf2 and CDKN2A expression in patients with end-stage renal disease: a pilot study[J].Aging (Albany NY),2020,12(16):16357-16367.[9]Bartels S,van Luttikhuizen JL,Christgen M,et al.CDKN2A loss and PIK3CA mutation in myoepithelial-like metaplastic breast cancer[J].J Pathol,2018,245(3):373-383.[10]Fraz?觔o L,do Carmo Martins M,Nunes VM,et al.BRAF V600E mutation and 9p21: CDKN2A/B and MTAP co-deletions-Markers in the clinical stratification of pediatric gliomas[J].BMC Cancer,2018,18(1):1259.[11]Gironi LC,Colombo E,Pasini B,et al.Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers[J].Arch Dermatol Res,2018,310(10):769-784.[12]Ibrahim I,Sibinga Mulder BG,Bonsing B,et al.Risk of multiple pancreatic cancers in CDKN2A-p16-Leiden mutation carriers[J].Eur J Hum Genet,2018,26(8):1227-1229.[13]Thompson ED,Roberts NJ,Wood LD,et al.The genetics of ductal adenocarcinoma of the pancreas in the year 2020: dramatic progress, but far to go[J].Mod Pathol,2020,33(12):2544-2563.[14]Ibrahim IS,Wasser MN,Wu Y,et al.High Growth Rate of Pancreatic Ductal Adenocarcinoma in CDKN2A-p16-Leiden Mutation Carriers[J].Cancer Prev Res (Phila),2018,11(9):551-556.[15]Potjer TP,van der Stoep N,Houwing-Duistermaat JJ,et al.Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study[J].BMC Res Notes,2015,8:264. [16]Yang C,Cimera RS,Aryeequaye R,et al.Adverse histology, homozygous loss of CDKN2A/B, and complex genomic alterations in locally advanced/metastatic renal mucinous tubular and spindle cell carcinoma[J].Mod Pathol,2021,34(2):445-456. [17]McClure JJ,Li X,Chou CJ.Advances and Challenges of HDAC Inhibitors in Cancer Therapeutics[J].Adv Cancer Res,2018,138:183-211. [18]Ke X,Qin Q,Deng T,et al.Heterogeneous Responses of Gastric Cancer Cell Lines to Tenovin-6 and Synergistic Effect with Chloroquine[J].Cancers (Basel),2020,12(2):365. [19]Aftab A,Shahzad S,Hussain HMJ,et al.CDKN2A/P16INK4A variants association with breast cancer and their in-silico analysis[J].Breast Cancer,2019,26(1):11-28.[20]Sun Q,Chen S,Hou Y,et al.Mutant CDKN2A regulates P16/p14 expression by alternative splicing in renal cell carcinoma metastasis[J].Pathol Res Pract,2021,223:153453.

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更新日期/Last Update: 1900-01-01