循环肿瘤DNA在肾癌中的研究进展

doi:10.11904/j.issn.1002-3070.2021.05.011

实用肿瘤学杂志 ›› 2021, Vol. 35 ›› Issue (5): 447-451.doi: 10.11904/j.issn.1002-3070.2021.05.011

循环肿瘤DNA在肾癌中的研究进展

张璐, 董振坤综述, 崔岩审校

哈尔滨医科大学附属肿瘤医院泌尿外科(哈尔滨 150081)

收稿日期:2021-02-23 修回日期:2021-04-07 出版日期:2021-10-28 发布日期:2021-10-25
通讯作者: 崔岩,E-mail:drcui1981@163.com
作者简介:张璐,女,(1995-),硕士研究生,从事泌尿及男生殖系统肿瘤分子诊断及精准治疗方面的研究。
基金资助:
黑龙江省博士后资助项目(编号:LBH-Z16216);国家级大学生创新创业训练计划资助项目(202110226061)

Research progress of circulating tumor DNA in renal cancer

ZHANG Lu, DONG Zhenkun, CUI Yan

Department of Urology,Harbin Medical University Cancer Hospital,Harbin 150081,China

Received:2021-02-23 Revised:2021-04-07 Online:2021-10-28 Published:2021-10-25

摘要/Abstract

摘要： 基于循环肿瘤细胞(Circulating tumor cells,CTCs)和游离核酸的液体活检技术,在恶性肿瘤的诊断到随访的整个过程中都有潜在的应用价值。与传统组织活检相比,循环肿瘤DNA(Circulating tumor DNA,ctDNA)检测的优势在于风险小,可以进行连续检测,可以监测疾病的复发和随着时间推移对治疗的反应。ctDNA检测的灵敏度取决于使用的检测技术和遗传平台,还受肿瘤部位、分期、肿瘤异质性、肿瘤克隆性等的影响。ctDNA在肾细胞癌(Renal cell carcinoma,RCC)的治疗选择、耐药监测、对依维莫司的治疗反应预测等方面也得到很好的应用。本文主要对ctDNA在肾癌中的研究现状及挑战进行综述。

关键词: 肾细胞癌, 循环肿瘤DNA, 循环肿瘤细胞, 液体活检

Abstract: Liquid biopsy technology based on circulating tumor cells(CTCs)and free nucleic acids has a potential application value in the whole process from malignant tumor diagnosis to follow-up.Compared with traditional tissue biopsy,the advantages of circulating tumor DNA(ctDNA)testing is that it has low risk,can be continuously tested,and can monitor the recurrence of the disease and the response to treatment over time.The sensitivity of ctDNA detection depends on the detection technology and genetic platform used,and is also affected by tumor location,staging,tumor heterogeneity,and tumor clonality.ctDNA has also been well applied in the treatment selection of renal cell carcinoma(RCC),drug resistance monitoring,and prediction of response to everolimus treatment.This article mainly reviews the current research status and challenges of ctDNA in renal cancer.

Key words: Renal cell carcinoma, Circulating tumor DNA, Circulating tumor cells, Liquid biopsy

中图分类号:

R737.1

张璐, 董振坤, 崔岩. 循环肿瘤DNA在肾癌中的研究进展[J]. 实用肿瘤学杂志, 2021, 35(5): 447-451.

ZHANG Lu, DONG Zhenkun, CUI Yan. Research progress of circulating tumor DNA in renal cancer[J]. Journal of Practical Oncology, 2021, 35(5): 447-451.

0
/ / 推荐

导出引用管理器 EndNote|Reference Manager|ProCite|BibTeX|RefWorks

链接本文: http://journal09.magtechjournal.com/Jwk3_syzlxzz/CN/10.11904/j.issn.1002-3070.2021.05.011

http://journal09.magtechjournal.com/Jwk3_syzlxzz/CN/Y2021/V35/I5/447

参考文献

1 Bergerot PG,Hahn AW,Bergerot CD,et al.The role of circulating tumor DNA in renal cell carcinoma[J].Curr Treat Options Oncol,2018,19(2):10.
2 Siegel RL,Miller KD,Jemal A.Cancer statistics,2019[J].CA Cancer J Clin,2019,69(1):7-34.
3 Nassar AH,Hamieh L,Gray KP,et al.Mutations and response to rapalogs in patients with metastatic renal cell carcinoma[J].Mol Cancer Ther,2020,19(2):690-696.
4 Voss MH,Chen D,Reising A,et al.PTEN expression,not mutation status in TSC1,TSC2,or mTOR,correlates with the outcome on everolimus in patients with renal cell carcinoma treated on the randomized RECORD-3 Trial[J].Clin Cancer Res,2019,25(2):506-514.
5 Hsieh JJ,Chen D,Wang PI,et al.Genomic biomarkers of a randomized trial comparing first-line everolimus and sunitinib in patients with metastatic renal cell carcinoma[J].Eur Urol,2017,71(3):405-414.
6 Yang Y,Miller CR,Lopez-Beltran A,et al.Liquid biopsies in the management of bladder cancer:next-generation biomarkers for diagnosis,surveillance,and treatment-response prediction[J].Crit Rev Oncog,2017,22(5-6):389-401.
7 Chen X,Wang L,Lou J.Nanotechnology strategies for the analysis of circulating tumor DNA:a review[J].Med Sci Monit,2020,26:e921040.
8 Wan J,Zhu L,Jiang Z,et al.Monitoring of plasma cell-free DNA in predicting postoperative recurrence of clear cell renal cell carcinoma[J].Urol Int,2013,91(3):273-278.
9 Bettegowda C,Sausen M,Leary RJ,et al.Detection of circulating tumor DNA in early-and late-stage human malignancies[J].Sci Transl Med,2014,6(224):224ra24.
10 Cheng F,Su L,Qian C.Circulating tumor DNA:a promising biomarker in the liquid biopsy of cancer[J].Oncotarget,2016,7(30):48832-48841.
11 Hahn AW,Gill DM,Maughan B,et al.Correlation of genomic alterations assessed by next-generation sequencing(NGS)of tumor tissue DNA and circulating tumor DNA(ctDNA)in metastatic renal cell carcinoma(mRCC):potential clinical implications[J].Oncotarget,2017,8(20):33614-33620.
12 Chae YK,Davis AA,Carneiro BA,et al.Concordance between genomic alterations assessed by next-generation sequencing in tumor tissue or circulating cell-free DNA[J].Oncotarget,2016,7(40):65364-65373.
13 Al-Qassab U,Lorentz CA,Laganosky D,et al.Pnfba-12 liquid biopsy for renal cell carcinoma[J].J Urol,2017,197(4):913-914.
14 Pal SK,Sonpavde G,Agarwal N,et al.Evolution of circulating tumor DNA profile from first-line to subsequent therapy in metastatic renal cell carcinoma[J].Eur Urol,2017,72(4):557-564.
15 Cimadamore A,Gasparrini S,Massari F,et al.Emerging molecular technologies in renal cell carcinoma:liquid biopsy[J].Cancers(Basel),2019,11(2):196.
16 Rhoades Smith KE,Bilen MA.A review of papillary renal cell carcinoma and MET inhibitors[J].Kidney Cancer,2019,3(3):151-161.
17 Voss MH,Hakimi AA,Pham CG,et al.Tumor genetic analyses of patients with metastatic renal cell carcinoma and extended benefit from mTOR inhibitor therapy[J].Clin Cancer Res,2014,20(7):1955-1964.
18 Hauser S,Zahalka T,Fechner G,et al.Serum DNA hypermethylation in patients with kidney cancer:results of a prospective study[J].Anticancer Res,2013,33(10):4651-4656.
19 Jung M,Ellinger J,Gevensleben H,et al.Cell-Free SHOX2 DNA Methylation in blood as a molecular staging parameter for risk stratification in renal cell Carcinoma Patients:A Prospective Observational Cohort Study[J].Clin Chem,2019,65(4):559-568.
20 李恒震,张艳桥.液体活检在结直肠癌诊断中的应用进展[J].实用肿瘤学杂志,2020,34(4):357-361.
21 Rodrigues Filho EM,Simon D,Ikuta N,et al.Elevated cell-free plasma DNA level as an independent predictor of mortality in patients with severe traumatic brain injury[J].J Neurotrauma,2014,31(19):1639-1646.
22 Shimony A,Zahger D,Gilutz H,et al.Cell free DNA detected by a novel method in acute ST-elevation myocardial infarction patients[J].Acute Card Care,2010,12(3):109-111.
23 Clementi A,Virzì GM,Brocca A,et al.The role of Cell-Free plasma DNA in critically Ill patients with sepsis[J].Blood Purif,2016,41(1-3):34-40.
24 Feng G,Ye X,Fang F,et al.Quantification of plasma cell-free DNA in predicting therapeutic efficacy of sorafenib on metastatic clear cell renal cell carcinoma[J].Dis Markers,2013,34(2):105-111.
25 Yamamoto Y,Uemura M,Fujita M,et al.Clinical significance of the mutational landscape and fragmentation of circulating tumor DNA in renal cell carcinoma[J].Cancer Sci,2019,110(2):617-628.
26 Shen SY,Singhania R,Fehringer G,et al.Sensitive tumour detection and classification using plasma cell-free DNA methylomes[J].Nature,2018,563(7732):579-583.
27 Dunaeva M,Pruijn GJM.Global characterization of circulating nucleic acids[J].Methods Mol Biol,2020,2063:257-268.
28 Piva F,Giulietti M,Santoni M,et al.Epithelial to mesenchymal transition in renal cell carcinoma:implications for cancer therapy[J].Mol Diagn Ther,2016,20(2):111-117.
29 Nel I,Gauler TC,Bublitz K,et al.Circulating tumor cell composition in renal cell carcinoma[J].PLoS One,2016,11(4):e0153018.
30 Liu S,Tian Z,Zhang L,et al.Combined cell surface carbonic anhydrase 9 and CD147 antigens enable high-efficiency capture of circulating tumor cells in clear cell renal cell carcinoma patients[J].Oncotarget,2016,7(37):59877-59891.
31 Oellerich M,Schütz E,Beck J,et al.Circulating Cell-Free DNA-Diagnostic and prognostic applications in personalized cancer therapy[J].Ther Drug Monit,2019,41(2):115-120.
32 Mader S,Pantel K.Liquid biopsy:current status and future perspectives[J].Oncol Res Treat,2017,40(7-8):404-408.

[1]	韩静, 蒲艳, 柳惠斌. SKA1对肾细胞癌细胞增殖凋亡的影响及其分子机制研究[J]. 实用肿瘤学杂志, 2020, 34(5): 404-411.
[2]	李恒震, 张艳桥. 液体活检在结直肠癌诊断中的应用进展[J]. 实用肿瘤学杂志, 2020, 34(4): 357-361.
[3]	韩雪阳, 李彬, 孙照勇, 王方明, 刘勇. 围手术期感染对肾细胞癌切除术后肿瘤特异性生存期的影响[J]. 实用肿瘤学杂志, 2020, 34(2): 169-175.
[4]	崔雪阳, 邢承忠. 液体活检在结直肠癌领域的研究及应用现状[J]. 实用肿瘤学杂志, 2018, 32(4): 367-370.
[5]	徐训政, 张好刚, 乔鹏飞, 王夫景. 循环肿瘤细胞检测的临床有效性和实用性分析[J]. 实用肿瘤学杂志, 2018, 32(2): 169-173.
[6]	罗斌,施奇惠,刘嘉湘综述,田建辉审校. 肺癌循环肿瘤细胞的临床意义[J]. 实用肿瘤学杂志, 2016, 30(4): 370-374.
[7]	张百红综述,岳红云审校. 肿瘤的起源:局部或全身？[J]. 实用肿瘤学杂志, 2013, 27(5): 444-446.
[8]	蔡莉, 宋晓薇, 潘丽华, 石光跃, 刘炜, 孙立春, 陈雪松, 赵丽娜. 探讨循环肿瘤细胞的上皮间质转化基因Twist对晚期乳腺癌化疗疗效的影响[J]. 实用肿瘤学杂志, 2013, 27(1): 37-41.
[9]	汤大北, 张清媛, 王静萱, 赵曙, 赵文辉. 雌激素解救晚期内分泌治疗耐药乳腺癌的临床观察[J]. 实用肿瘤学杂志, 2012, 26(4): 289-292.
[10]	钱六七, 刘芊, 刘毅, 张少华, 王涛, 吴世凯, 宋三泰, 刘兵, 江泽飞. 循环肿瘤细胞在转移性乳腺癌中的表达及其与多种血清肿瘤标志物的关系[J]. 实用肿瘤学杂志, 2012, 26(3): 220-224.
[11]	关晶波;郑秀兰. 超声造影在肾癌诊断中的应用现状及展望[J]. 实用肿瘤学杂志, 2008, 22(04): 393-395.
[12]	熊晓平;陈修己. 肾细胞癌中p53基因表达与预后关系的研究[J]. 实用肿瘤学杂志, 2004, 18(05): 339-340.
[13]	臧达;徐坚民;杨鹏;龚静山;饶梓彬;胡丽霞;李肃;贾贵静;王晓枚;庞春平. 肾细胞癌的CT表现与病理分析[J]. 实用肿瘤学杂志, 2004, 18(02): 89-91.

循环肿瘤DNA在肾癌中的研究进展

Research progress of circulating tumor DNA in renal cancer

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 13

编辑推荐

Metrics

本文评价