Liu Xue, Fang Xuefeng, Hu Hanguang, Fu Xianhua, Chen Ying, Yuan Ying
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.
Mol Clin Oncol. 2018 Oct;9(4):472-476. doi: 10.3892/mco.2018.1691. Epub 2018 Aug 6.
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.
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。