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《血浆表皮生长因子受体变异检测分析前程序临床实践指南》。

Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing.

机构信息

Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2022 Mar 1;42(2):141-149. doi: 10.3343/alm.2022.42.2.141.

DOI:10.3343/alm.2022.42.2.141
PMID:34635607
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8548242/
Abstract

Standardization of cell-free DNA (cfDNA) testing processes is necessary to obtain clinically reliable results. The pre-analytical phase of cfDNA testing greatly influences the results because of the low proportion and stability of circulating tumor DNA (ctDNA). In this review, we provide evidence-based clinical practice guidelines for pre-analytical phase procedures of plasma epidermal growth factor receptor gene () variant testing. Specific recommendations for pre-analytical procedures were proposed based on evidence from the literature and our experimental data. Standardization of pre-analytical procedures can improve the analytical performance of cfDNA testing.

摘要

cfDNA 检测过程的标准化对于获得可靠的临床结果是必要的。由于循环肿瘤 DNA(ctDNA)比例低且稳定性差,cfDNA 检测的分析前阶段对结果影响很大。在本综述中,我们提供了基于血浆表皮生长因子受体基因()变异检测分析前阶段程序的循证临床实践指南。根据文献证据和我们的实验数据,为分析前程序提出了具体建议。分析前程序的标准化可以提高 cfDNA 检测的分析性能。

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本文引用的文献

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Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma.肝细胞癌韩国患者血浆游离 DNA 的靶向二代测序。
Ann Lab Med. 2021 Mar 1;41(2):198-206. doi: 10.3343/alm.2021.41.2.198.
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Selecting short length nucleic acids localized in exosomes improves plasma mutation detection in NSCLC patients.选择外泌体中定位的短链核酸可改善非小细胞肺癌患者血浆中的突变检测。
Cancer Cell Int. 2019 Oct 1;19:251. doi: 10.1186/s12935-019-0978-8. eCollection 2019.
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Five Technologies for Detecting the T790M Mutation in the Circulating Cell-Free DNA of Patients With Non-small Cell Lung Cancer: A Comparison.检测非小细胞肺癌患者循环游离DNA中T790M突变的五种技术:一项比较研究
Front Oncol. 2019 Jul 16;9:631. doi: 10.3389/fonc.2019.00631. eCollection 2019.
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Combined plasma and tissue genotyping of EGFR T790M benefits NSCLC patients: a real-world clinical example.联合血浆和组织 EGFR T790M 基因分型可使 NSCLC 患者获益:真实世界临床实例。
Mol Oncol. 2019 May;13(5):1226-1234. doi: 10.1002/1878-0261.12481. Epub 2019 Apr 10.
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Cell-free DNA in the supernatant of pleural effusion can be used to detect driver and resistance mutations, and can guide tyrosine kinase inhibitor treatment decisions.胸腔积液上清液中的游离DNA可用于检测驱动突变和耐药突变,并可指导酪氨酸激酶抑制剂的治疗决策。
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New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis.通过单链DNA分析对循环肿瘤DNA的结构特征和最佳检测的新见解。
NPJ Genom Med. 2018 Nov 23;3:31. doi: 10.1038/s41525-018-0069-0. eCollection 2018.
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The diagnostic accuracy of circulating tumor DNA for the detection of EGFR-T790M mutation in NSCLC: a systematic review and meta-analysis.循环肿瘤 DNA 检测非小细胞肺癌 EGFR-T790M 突变的诊断准确性:系统评价和荟萃分析。
Sci Rep. 2018 Sep 6;8(1):13379. doi: 10.1038/s41598-018-30780-4.
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