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Tumor molecular profiling of NSCLC patients using next generation sequencing.非小细胞肺癌患者的肿瘤分子谱分析采用下一代测序技术。
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Phase1 study of cisplatin plus pemetrexed with erlotinib and bevacizumab for chemotherapy-naïve advanced non-squamous non-small cell lung cancer with EGFR mutations.厄洛替尼和贝伐珠单抗联合顺铂加培美曲塞治疗化疗初治的表皮生长因子受体突变型晚期非鳞状非小细胞肺癌的 1 期研究。
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Intratumor and Intertumor Heterogeneity in Melanoma.黑色素瘤的肿瘤内和肿瘤间异质性
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Dynamics of EGFR mutations in plasma recapitulates the clinical response to EGFR-TKIs in NSCLC patients.血浆中表皮生长因子受体(EGFR)突变的动态变化概括了非小细胞肺癌(NSCLC)患者对EGFR酪氨酸激酶抑制剂(EGFR-TKIs)的临床反应。
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Efficacy of Vemurafenib Treatment in 43 Metastatic Melanoma Patients with BRAF Mutation. Single-Institute Retrospective Analysis, Early Real-Life Survival Data.维莫非尼治疗43例BRAF突变转移性黑色素瘤患者的疗效。单机构回顾性分析,早期真实生存数据。
Pathol Oncol Res. 2019 Jan;25(1):45-50. doi: 10.1007/s12253-017-0324-1. Epub 2017 Sep 29.
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Non-V600 BRAF mutations recurrently found in lung cancer predict sensitivity to the combination of Trametinib and Dabrafenib.在肺癌中反复发现的非V600 BRAF突变预示着对曲美替尼和达拉非尼联合用药的敏感性。
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Genomic Analysis of Plasma Cell-Free DNA in Patients With Cancer.癌症患者血浆游离DNA的基因组分析。
JAMA Oncol. 2017 Jun 1;3(6):740-741. doi: 10.1001/jamaoncol.2016.2835.
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Dabrafenib plus trametinib in patients with previously treated BRAF(V600E)-mutant metastatic non-small cell lung cancer: an open-label, multicentre phase 2 trial.达拉非尼联合曲美替尼治疗既往接受过治疗的BRAF(V600E)突变转移性非小细胞肺癌患者:一项开放标签、多中心2期试验。
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10
Comprehensive Genomic Profiling Facilitates Implementation of the National Comprehensive Cancer Network Guidelines for Lung Cancer Biomarker Testing and Identifies Patients Who May Benefit From Enrollment in Mechanism-Driven Clinical Trials.综合基因组分析有助于实施美国国立综合癌症网络肺癌生物标志物检测指南,并识别可能从参与机制驱动的临床试验中获益的患者。
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维莫非尼治疗BRAF突变肺腺癌重度吸烟者的疗效:病例报告及文献综述

Efficacy of vemurafenib in a heavy smoker with BRAF-mutated lung adenocarcinoma: A case report and literature review.

作者信息

Liu Xue, Fang Xuefeng, Hu Hanguang, Fu Xianhua, Chen Ying, Yuan Ying

机构信息

Department of Medical Oncology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, P.R. China.

Department of Radiology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, P.R. China.

出版信息

Mol Clin Oncol. 2018 Oct;9(4):472-476. doi: 10.3892/mco.2018.1691. Epub 2018 Aug 6.

DOI:10.3892/mco.2018.1691
PMID:30214735
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6125693/
Abstract

At present, research on BRAF gene mutations appears to be mainly focused on melanoma rather than non-small-cell lung cancer (NSCLC). We herein describe the case of a patient with BRAF V600E-mutated advanced NSCLC, whose symptoms were relieved and computed tomography imaging revealed partial response to vemurafenib following failure of chemotherapy. This case demonstrates the promising prospects of BRAF inhibitor treatment in patients with BRAF-mutated NSCLC. Targeted therapies have significantly modified the treatment of NSCLC. However, tumor tissue is frequently hard to obtain, whereas the coincidence rate of gene mutations between the plasma and tumor tissue is 60-80%. Therefore, in cases where tumor tissue is difficult to obtain, plasma next-generation sequencing may be used to detect gene mutations, which can overcome the limitations of gene detection. Furthermore, due to the tumor heterogeneity, different patients exhibit different gene mutation abundance. Research has demonstrated that mutation abundance is associated with the therapeutic efficacy of epidermal growth factor receptor-tyrosine kinase inhibitors. However, the association between BRAF mutation abundance and the therapeutic effect of BRAF inhibitors requires further verification.

摘要

目前,关于BRAF基因突变的研究似乎主要集中在黑色素瘤而非非小细胞肺癌(NSCLC)。我们在此描述了一例BRAF V600E突变的晚期NSCLC患者,其症状得到缓解,化疗失败后计算机断层扫描成像显示对维莫非尼有部分反应。该病例证明了BRAF抑制剂治疗BRAF突变NSCLC患者的前景广阔。靶向治疗显著改变了NSCLC的治疗方式。然而,肿瘤组织常常难以获取,而血浆与肿瘤组织之间基因突变的符合率为60%至80%。因此,在难以获取肿瘤组织的情况下,可使用血浆二代测序来检测基因突变,这能够克服基因检测的局限性。此外,由于肿瘤异质性,不同患者表现出不同的基因突变丰度。研究表明,突变丰度与表皮生长因子受体-酪氨酸激酶抑制剂的治疗效果相关。然而,BRAF突变丰度与BRAF抑制剂治疗效果之间的关联尚需进一步验证。