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本文引用的文献

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Osimertinib or Platinum-Pemetrexed in EGFR T790M-Positive Lung Cancer.奥希替尼或铂类培美曲塞用于治疗表皮生长因子受体T790M阳性肺癌
N Engl J Med. 2017 Feb 16;376(7):629-640. doi: 10.1056/NEJMoa1612674. Epub 2016 Dec 6.
2
Mutation analysis of circulating plasma DNA to determine response to EGFR tyrosine kinase inhibitor therapy of lung adenocarcinoma patients.检测循环血浆 DNA 突变分析以确定肺腺癌患者对表皮生长因子受体酪氨酸激酶抑制剂治疗的反应。
Sci Rep. 2016 Sep 19;6:33505. doi: 10.1038/srep33505.
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Challenges in molecular testing in non-small-cell lung cancer patients with advanced disease.晚期非小细胞肺癌患者分子检测面临的挑战。
Lancet. 2016 Sep 3;388(10048):1002-11. doi: 10.1016/S0140-6736(16)31340-X. Epub 2016 Sep 1.
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Noninvasive genotyping and monitoring of anaplastic lymphoma kinase (ALK) rearranged non-small cell lung cancer by capture-based next-generation sequencing.通过基于捕获的下一代测序对间变性淋巴瘤激酶(ALK)重排的非小细胞肺癌进行无创基因分型和监测。
Oncotarget. 2016 Oct 4;7(40):65208-65217. doi: 10.18632/oncotarget.11569.
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ctDNA Determination of EGFR Mutation Status in European and Japanese Patients with Advanced NSCLC: The ASSESS Study.ctDNA 检测在欧洲和日本晚期 NSCLC 患者中 EGFR 基因突变状态:ASSESS 研究。
J Thorac Oncol. 2016 Oct;11(10):1682-9. doi: 10.1016/j.jtho.2016.05.036. Epub 2016 Jul 25.
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Association Between Plasma Genotyping and Outcomes of Treatment With Osimertinib (AZD9291) in Advanced Non-Small-Cell Lung Cancer.晚期非小细胞肺癌患者血浆基因分型与奥希替尼(AZD9291)治疗结果的相关性
J Clin Oncol. 2016 Oct 1;34(28):3375-82. doi: 10.1200/JCO.2016.66.7162. Epub 2016 Jun 27.
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Circulating cell-free DNA as a prognostic and predictive biomarker in non-small cell lung cancer.循环游离DNA作为非小细胞肺癌的预后和预测生物标志物
Oncotarget. 2016 Jul 12;7(28):44583-44595. doi: 10.18632/oncotarget.10069.
8
Analysis of intratumor heterogeneity unravels lung cancer evolution.肿瘤内异质性分析揭示肺癌的演变。
Mol Cell Oncol. 2015 Apr 1;2(3):e985549. doi: 10.4161/23723556.2014.985549. eCollection 2015 Jul-Sep.
9
Prospective Validation of Rapid Plasma Genotyping for the Detection of EGFR and KRAS Mutations in Advanced Lung Cancer.前瞻性验证快速血浆基因分型检测晚期肺癌中 EGFR 和 KRAS 突变。
JAMA Oncol. 2016 Aug 1;2(8):1014-22. doi: 10.1001/jamaoncol.2016.0173.
10
Plasma EGFR T790M ctDNA status is associated with clinical outcome in advanced NSCLC patients with acquired EGFR-TKI resistance.血浆表皮生长因子受体(EGFR)T790M循环肿瘤DNA(ctDNA)状态与获得性EGFR酪氨酸激酶抑制剂(TKI)耐药的晚期非小细胞肺癌(NSCLC)患者的临床结局相关。
Sci Rep. 2016 Feb 12;6:20913. doi: 10.1038/srep20913.

非小细胞肺癌患者的血浆基因分型:是简化还是混淆诊断?

Plasma genotyping in patients with non-small-cell lung cancer: simplifying or confusing the diagnosis?

作者信息

Das Satya, Horn Leora

机构信息

2220 Pierce Avenue, 777 Preston Research Building, Nashville, TN 37232, USA.

出版信息

Lung Cancer Manag. 2017 Jul;6(1):29-37. doi: 10.2217/lmt-2016-0019. Epub 2017 May 19.

DOI:10.2217/lmt-2016-0019
PMID:30643568
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6310325/
Abstract

The identification of driver mutations in patients with advanced non-small-cell lung cancer has changed the treatment outcomes for patients with actionable driver mutations. Lack of tissue at diagnosis, however, remains a central obstacle in making optimal treatment decisions in patients with advanced disease. Although the US FDA has approved one plasma-based test for detecting epidermal growth factor receptor mutations in patients with advanced stage disease, sensitivity of these assays remains mediocre, necessitating additional tissue testing and possible delays in patients with negative results. Serial monitoring for response and early detection of acquired resistance to targeted therapies is also possible with cell-free DNA, however the benefit of switching therapy prior to detection of changes on imaging is unknown currently.

摘要

晚期非小细胞肺癌患者驱动基因突变的鉴定改变了具有可操作驱动基因突变患者的治疗结果。然而,诊断时缺乏组织仍然是晚期疾病患者做出最佳治疗决策的主要障碍。尽管美国食品药品监督管理局(FDA)已批准一项基于血浆的检测用于检测晚期疾病患者的表皮生长因子受体突变,但这些检测的敏感性仍然一般,这就需要进行额外的组织检测,并且可能会使检测结果为阴性的患者出现治疗延迟。通过游离DNA进行反应的连续监测以及对靶向治疗获得性耐药的早期检测也是可行的,然而目前在影像学检测到变化之前更换治疗的益处尚不清楚。