Expert consensus on the diagnosis and treatment of solid tumors with BRAF mutations.

IF 33.2 1区 综合性期刊 Q1 MULTIDISCIPLINARY SCIENCES
The Innovation Pub Date : 2024-10-18 eCollection Date: 2024-11-04 DOI:10.1016/j.xinn.2024.100661
Wenxian Wang, Bin Lian, Chunwei Xu, Qian Wang, Ziming Li, Nan Zheng, Aijun Liu, Jinpu Yu, Wenzhao Zhong, Zhijie Wang, Yongchang Zhang, Jingjing Liu, Shirong Zhang, Xiuyu Cai, Anwen Liu, Wen Li, Lili Mao, Ping Zhan, Hongbing Liu, Tangfeng Lv, Liyun Miao, Lingfeng Min, Yu Chen, Jingping Yuan, Feng Wang, Zhansheng Jiang, Gen Lin, Long Huang, Xingxiang Pu, Rongbo Lin, Weifeng Liu, Chuangzhou Rao, Dongqing Lv, Zongyang Yu, Xiaoyan Li, Chuanhao Tang, Chengzhi Zhou, Junping Zhang, Junli Xue, Hui Guo, Qian Chu, Rui Meng, Xuewen Liu, Jingxun Wu, Rui Zhang, Jin Zhou, Zhengfei Zhu, Yongheng Li, Hong Qiu, Fan Xia, Yuanyuan Lu, Xiaofeng Chen, Jian Feng, Rui Ge, Enyong Dai, Yu Han, Weiwei Pan, Fei Pang, Xin Huang, Meizhen Hu, Qing Hao, Kai Wang, Fan Wu, Binbin Song, Bingwei Xu, Liping Wang, Youcai Zhu, Li Lin, Yanru Xie, Xinqing Lin, Jing Cai, Ling Xu, Jisheng Li, Xiaodong Jiao, Kainan Li, Jia Wei, Huijing Feng, Lin Wang, Yingying Du, Wang Yao, Xuefei Shi, Xiaomin Niu, Dongmei Yuan, Yanwen Yao, Jianhui Huang, Yue Feng, Yinbin Zhang, Pingli Sun, Hong Wang, Mingxiang Ye, Dong Wang, Zhaofeng Wang, Yue Hao, Zhen Wang, Bin Wan, Donglai Lv, Shengjie Yang, Jin Kang, Jiatao Zhang, Chao Zhang, Wenfeng Li, Jianfei Fu, Lizhi Wu, Shijie Lan, Juanjuan Ou, Lin Shi, Zhanqiang Zhai, Yina Wang, Bihui Li, Zhang Zhang, Ke Wang, Xuelei Ma, Zhongwu Li, Zhefeng Liu, Nong Yang, Lin Wu, Huijuan Wang, Gu Jin, Guansong Wang, Jiandong Wang, Hubing Shi, Meiyu Fang, Yong Fang, Yuan Li, Xiaojia Wang, Jing Chen, Yiping Zhang, Xixu Zhu, Yi Shen, Shenglin Ma, Biyun Wang, Yong Song, Zhengbo Song, Wenfeng Fang, Yuanzhi Lu, Lu Si
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引用次数: 0

Abstract

The BRAF gene is an important signaling molecule in human cells that is involved in the regulation of cell growth, differentiation, and survival. When the BRAF gene mutates, it can lead to abnormal activation of the signaling pathway, which promotes cell proliferation, inhibits cell apoptosis, and ultimately contributes to the occurrence and development of cancer. BRAF mutations are widely present in various cancers, including malignant melanoma, thyroid cancer, colorectal cancer, non-small cell lung cancer, and hairy cell leukemia, among others. BRAF is an important target for the treatment of various solid tumors, and targeted combination therapies, represented by BRAF inhibitors, have become one of the main treatment modalities for a variety of BRAF-mutation-positive solid tumors. Dabrafenib plus trametinib, as the first tumor-agnostic therapy, has been approved by the US Food and Drug Administration for the treatment of adult and pediatric patients aged 6 years and older harboring a BRAF V600E mutation with unresectable or metastatic solid tumors that have progressed following prior treatment and who have no satisfactory alternative treatment options. This is also the first time a BRAF/MEK inhibitor combination has been approved for use in pediatric patients. As research into the diagnosis and treatment of BRAF mutations advances, standardizing the detection of BRAF mutations and the clinical application of BRAF inhibitors becomes increasingly important. Therefore, we have established a universal and systematic strategy for diagnosing and treating solid tumors with BRAF mutations. In this expert consensus, we (1) summarize the epidemiology and clinical characteristics of BRAF mutations in different solid tumors, (2) provide recommendations for the selection of genetic testing methods and platforms, and (3) establish a universal strategy for the diagnosis and treatment of patients with solid tumors harboring BRAF mutations.

关于诊断和治疗 BRAF 基因突变实体瘤的专家共识。
BRAF 基因是人体细胞中的一个重要信号分子,参与细胞生长、分化和存活的调控。当 BRAF 基因发生突变时,会导致信号通路异常激活,从而促进细胞增殖,抑制细胞凋亡,最终导致癌症的发生和发展。BRAF 基因突变广泛存在于各种癌症中,包括恶性黑色素瘤、甲状腺癌、结直肠癌、非小细胞肺癌和毛细胞白血病等。BRAF是治疗各种实体瘤的重要靶点,以BRAF抑制剂为代表的靶向联合疗法已成为各种BRAF突变阳性实体瘤的主要治疗方式之一。达拉菲尼(Dabrafenib)加曲美替尼(Trametinib)作为首个肿瘤标志物疗法,已获得美国食品药品管理局批准,用于治疗携带BRAF V600E突变的6岁及以上成人和儿童患者,这些患者患有不可切除或转移性实体瘤,在既往治疗后病情有所进展,且没有满意的替代治疗方案。这也是 BRAF/MEK 抑制剂组合首次获准用于儿童患者。随着 BRAF 基因突变诊断和治疗研究的深入,BRAF 基因突变检测和 BRAF 抑制剂临床应用的标准化变得越来越重要。因此,我们为诊断和治疗 BRAF 基因突变的实体瘤建立了一套通用、系统的策略。在这份专家共识中,我们(1)总结了不同实体瘤中 BRAF 基因突变的流行病学和临床特点;(2)为基因检测方法和平台的选择提供了建议;(3)为诊断和治疗携带 BRAF 基因突变的实体瘤患者建立了通用策略。
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来源期刊
The Innovation
The Innovation MULTIDISCIPLINARY SCIENCES-
CiteScore
38.30
自引率
1.20%
发文量
134
审稿时长
6 weeks
期刊介绍: The Innovation is an interdisciplinary journal that aims to promote scientific application. It publishes cutting-edge research and high-quality reviews in various scientific disciplines, including physics, chemistry, materials, nanotechnology, biology, translational medicine, geoscience, and engineering. The journal adheres to the peer review and publishing standards of Cell Press journals. The Innovation is committed to serving scientists and the public. It aims to publish significant advances promptly and provides a transparent exchange platform. The journal also strives to efficiently promote the translation from scientific discovery to technological achievements and rapidly disseminate scientific findings worldwide. Indexed in the following databases, The Innovation has visibility in Scopus, Directory of Open Access Journals (DOAJ), Web of Science, Emerging Sources Citation Index (ESCI), PubMed Central, Compendex (previously Ei index), INSPEC, and CABI A&I.
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