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KRAS突变:分析考量因素

KRAS mutations: analytical considerations.

作者信息

Herreros-Villanueva Marta, Chen Chih-Chieh, Yuan Shyng-Shiou F, Liu Ta-Chih, Er Tze-Kiong

机构信息

Department of Gastroenterology, Hospital Donostia/Instituto Biodonostia, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Universidad del País Vasco UPV/EHU, San Sebastián, Spain.

Center for Lipid Biosciences, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan; Biomedical Technology and Device Research Laboratories, Industrial Technology Research Institute, Hsinchu, Taiwan.

出版信息

Clin Chim Acta. 2014 Apr 20;431:211-20. doi: 10.1016/j.cca.2014.01.049. Epub 2014 Feb 15.

DOI:10.1016/j.cca.2014.01.049
PMID:24534449
Abstract

Colorectal cancer (CRC) is the third most common cancer and the second most common cause of cancer death globally. Significant improvements in survival have been made in patients with metastasis by new therapies. For example, Cetuximab and Panitumumab are monoclonal antibodies that inhibit the epidermal growth receptor (EGFR). KRAS mutations in codon 12 and 13 are the recognized biomarkers that are analyzed in clinics before the administration of anti-EGFR therapy. Genetic analyses have revealed that mutations in KRAS predict a lack of response to Panitumumab and Cetuximab in patients with metastatic CRC (mCRC). Notably, it is estimated that 35-45% of CRC patients harbor KRAS mutations. Therefore, KRAS mutation testing should be performed in all individuals with the advanced CRC in order to identify the patients who will not respond to the monoclonal EGFR antibody inhibitors. New techniques for KRAS testing have arisen rapidly, and each technique has advantages and disadvantages. Herein, we review the latest published literature specific to KRAS mutation testing techniques. Since reliability and feasibility are important issues in clinical analyses. Therefore, this review also summarizes the effectiveness and limitations of numerous KRAS mutation testing techniques.

摘要

结直肠癌(CRC)是全球第三大常见癌症,也是癌症死亡的第二大常见原因。新疗法已使转移性患者的生存率有了显著提高。例如,西妥昔单抗和帕尼单抗是抑制表皮生长因子受体(EGFR)的单克隆抗体。第12和13密码子中的KRAS突变是公认的生物标志物,在临床中抗EGFR治疗前进行分析。基因分析显示,KRAS突变预示着转移性结直肠癌(mCRC)患者对帕尼单抗和西妥昔单抗无反应。值得注意的是,估计35%-45%的CRC患者存在KRAS突变。因此,所有晚期CRC患者均应进行KRAS突变检测,以识别对单克隆EGFR抗体抑制剂无反应的患者。KRAS检测的新技术迅速涌现,每种技术都有优缺点。在此,我们回顾了最新发表的关于KRAS突变检测技术的文献。由于可靠性和可行性是临床分析中的重要问题。因此,本综述还总结了众多KRAS突变检测技术的有效性和局限性。

相似文献

1
KRAS mutations: analytical considerations.KRAS突变:分析考量因素
Clin Chim Acta. 2014 Apr 20;431:211-20. doi: 10.1016/j.cca.2014.01.049. Epub 2014 Feb 15.
2
Clinical relevance of EGFR- and KRAS-status in colorectal cancer patients treated with monoclonal antibodies directed against the EGFR.表皮生长因子受体(EGFR)和KRAS状态在接受抗EGFR单克隆抗体治疗的结直肠癌患者中的临床相关性
Cancer Treat Rev. 2009 May;35(3):262-71. doi: 10.1016/j.ctrv.2008.11.005. Epub 2008 Dec 30.
3
Activating KRAS mutations and overexpression of epidermal growth factor receptor as independent predictors in metastatic colorectal cancer patients treated with cetuximab.KRAS 基因突变激活和表皮生长因子受体过表达是西妥昔单抗治疗转移性结直肠癌患者的独立预测指标。
Ann Surg. 2010 Feb;251(2):254-60. doi: 10.1097/SLA.0b013e3181bc9d96.
4
Clinical and economic value of screening for Kras mutations as predictors of response to epidermal growth factor receptor inhibitors.筛选 Kras 突变作为表皮生长因子受体抑制剂反应预测因子的临床和经济价值。
Am J Health Syst Pharm. 2009 Dec 1;66(23):2105-12. doi: 10.2146/ajhp090036.
5
Predictive and prognostic factors in the complex treatment of patients with colorectal cancer.结直肠癌患者综合治疗中的预测和预后因素。
Magy Onkol. 2010 Dec;54(4):383-94. doi: 10.1556/MOnkol.54.2010.4.13.
6
Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer.野生型BRAF是转移性结直肠癌对帕尼单抗或西妥昔单抗产生反应所必需的。
J Clin Oncol. 2008 Dec 10;26(35):5705-12. doi: 10.1200/JCO.2008.18.0786. Epub 2008 Nov 10.
7
Cost-effectiveness of KRAS testing in metastatic colorectal cancer patients in the United States and Germany.美国和德国转移性结直肠癌患者 KRAS 检测的成本效益分析。
Int J Cancer. 2012 Jul 15;131(2):438-45. doi: 10.1002/ijc.26400. Epub 2012 Jan 3.
8
Clinical relevance of KRAS mutations in codon 13: Where are we?KRAS 突变在 13 号密码子的临床意义:我们在哪里?
Cancer Lett. 2014 Feb 1;343(1):1-5. doi: 10.1016/j.canlet.2013.09.012. Epub 2013 Sep 16.
9
Monoclonal antibodies in the treatment of metastatic colorectal cancer: a review.单克隆抗体在转移性结直肠癌治疗中的应用:综述。
Clin Ther. 2010 Mar;32(3):437-53. doi: 10.1016/j.clinthera.2010.03.012.
10
Analysis of PTEN, BRAF, and EGFR status in determining benefit from cetuximab therapy in wild-type KRAS metastatic colon cancer.分析PTEN、BRAF和EGFR状态以确定野生型KRAS转移性结肠癌患者从西妥昔单抗治疗中获益的情况。
J Clin Oncol. 2009 Dec 10;27(35):5924-30. doi: 10.1200/JCO.2008.21.6796. Epub 2009 Nov 2.

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Int J Genomics. 2022 May 31;2022:5281846. doi: 10.1155/2022/5281846. eCollection 2022.
2
Mass spectrometric detection of KRAS protein mutations using molecular imprinting.利用分子印迹技术进行 KRAS 蛋白突变的质谱检测。
Nanoscale. 2021 Dec 16;13(48):20401-20411. doi: 10.1039/d1nr03180e.
3
Single-molecule detection of cancer mutations using a novel PCR-LDR-qPCR assay.利用新型 PCR-LDR-qPCR 检测方法进行癌症基因突变的单分子检测。
Hum Mutat. 2020 May;41(5):1051-1068. doi: 10.1002/humu.23987. Epub 2020 Feb 17.
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The measurement of KRAS G12 mutants using multiplexed selected reaction monitoring and ion mobility mass spectrometry.使用多重选择反应监测和离子淌度质谱法测量 KRAS G12 突变体。
Rapid Commun Mass Spectrom. 2020 Sep;34 Suppl 4(Suppl 4):e8657. doi: 10.1002/rcm.8657. Epub 2020 Feb 14.
5
Analysis of KRAS, NRAS and BRAF mutational profile by combination of in-tube hybridization and universal tag-microarray in tumor tissue and plasma of colorectal cancer patients.联合管内杂交和通用标签微阵列分析结直肠癌患者肿瘤组织和血浆中的 KRAS、NRAS 和 BRAF 突变谱。
PLoS One. 2018 Dec 18;13(12):e0207876. doi: 10.1371/journal.pone.0207876. eCollection 2018.
6
NG25, a novel inhibitor of TAK1, suppresses KRAS-mutant colorectal cancer growth in vitro and in vivo.NG25,一种新型的 TAK1 抑制剂,在体外和体内抑制 KRAS 突变型结直肠癌细胞生长。
Apoptosis. 2019 Feb;24(1-2):83-94. doi: 10.1007/s10495-018-1498-z.
7
RAS-expanded Mutations and HER2 Expression in Metastatic Colorectal Cancer: A New Step of Precision Medicine.转移性结直肠癌中的RAS扩增突变与HER2表达:精准医学的新进展
Appl Immunohistochem Mol Morphol. 2018 Sep;26(8):539-544. doi: 10.1097/PAI.0000000000000475.
8
Molecular Testing for Gastrointestinal Cancer.胃肠道癌的分子检测
J Pathol Transl Med. 2017 Mar;51(2):103-121. doi: 10.4132/jptm.2017.01.24. Epub 2017 Feb 19.
9
A rational two-step approach to KRAS mutation testing in colorectal cancer using high resolution melting analysis and pyrosequencing.一种使用高分辨率熔解分析和焦磷酸测序对结直肠癌进行KRAS突变检测的合理两步法。
BMC Cancer. 2016 Aug 2;16:585. doi: 10.1186/s12885-016-2589-2.
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KRAS G12V Mutation Detection by Droplet Digital PCR in Circulating Cell-Free DNA of Colorectal Cancer Patients.通过液滴数字PCR检测结直肠癌患者循环游离DNA中的KRAS G12V突变
Int J Mol Sci. 2016 Apr 1;17(4):484. doi: 10.3390/ijms17040484.