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肺癌激酶组融合的基因组特征及预后评估揭示了新的可靶向治疗的融合基因。

Genomic characterization and outcome evaluation of kinome fusions in lung cancer revealed novel druggable fusions.

作者信息

Li Binghao, Qu Hao, Zhang Jing, Pan Weibo, Liu Meng, Yan Xiaobo, Huang Xin, He Xuexin, Lin Dong, Liu Sisi, Guan Ruting, Wu Yong, Ou Qiuxiang, Bao Hua, Xu Youbin, Wu Xue, Shao Yang, Lin Nong

机构信息

Bone Metastasis Service, Department of Orthopaedics, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

Institute of Orthopaedic Research, Zhejiang University, Hangzhou, Zhejiang, China.

出版信息

NPJ Precis Oncol. 2021 Sep 10;5(1):81. doi: 10.1038/s41698-021-00221-z.

Abstract

Kinase fusions represent an important type of somatic alterations that promote oncogenesis and serve as diagnostic markers in lung cancer. We aimed to identify the landscape of clinically relevant kinase fusions in Chinese lung cancer and to explore rare kinase rearrangements; thus, providing valuable evidence for therapeutic decision making. We performed genomic profiling of 425 cancer-relevant genes from tumor/plasma biopsies from a total of 17,442 Chinese lung cancer patients using next generation sequencing (NGS). Patients' clinical characteristics and treatment histories were retrospectively studied. A total of 1162 patients (6.66%; 1162/17,442) were identified as having kinase fusions, including 906 adenocarcinomas (ADCs) and 35 squamous cell carcinomas (SCCs). In ADC, 170 unique gene fusion pairs were observed, including rare kinase fusions, SLC12A2-ROS1, NCOA4-RET, and ANK3-RET. As for SCC, 15 unique gene fusions were identified, among which the most frequent were EML4-ALK and FGFR3-TACC3. Analyses of oncogenic mutations revealed a dual role for the gene fusions, CCDC6-RET and FGFR3-TACC3, in driving oncogenesis or serving as acquired resistance mechanisms to kinase inhibitors. In addition, our real-world evidence showed that patients with recurrent kinase fusions with low frequency (two occurrences) could benefit from treatment with kinase inhibitors' off-label use. Notably, patients with stage IV ADC who had novel RORB-ALK or AFF2-RET fusions, but no other known oncogenic driver mutations, demonstrated favorable clinical outcomes on tyrosine kinase inhibitors. Our data provide a comprehensive overview of the landscape of oncogenic kinase fusions in lung cancer, which assist in recognizing potentially druggable fusions that can be translated into therapeutic applications.

摘要

激酶融合是促进肿瘤发生的一种重要的体细胞改变类型,并且可作为肺癌的诊断标志物。我们旨在明确中国肺癌患者中临床相关激酶融合的情况,并探索罕见的激酶重排;从而为治疗决策提供有价值的证据。我们使用二代测序(NGS)对总共17442例中国肺癌患者的肿瘤/血浆活检样本中的425个癌症相关基因进行了基因组分析。对患者的临床特征和治疗史进行了回顾性研究。共有1162例患者(6.66%;1162/17442)被鉴定为存在激酶融合,其中包括906例腺癌(ADC)和35例鳞状细胞癌(SCC)。在ADC中,观察到170个独特的基因融合对,包括罕见的激酶融合,如SLC12A2-ROS1、NCOA4-RET和ANK3-RET。至于SCC,鉴定出15个独特的基因融合,其中最常见的是EML4-ALK和FGFR3-TACC3。致癌突变分析揭示了基因融合CCDC6-RET和FGFR3-TACC3在驱动肿瘤发生或作为激酶抑制剂获得性耐药机制方面的双重作用。此外,我们的真实世界证据表明,低频复发激酶融合(出现两次)的患者可从激酶抑制剂的非标签使用治疗中获益。值得注意的是,具有新型RORB-ALK或AFF2-RET融合但无其他已知致癌驱动突变的IV期ADC患者,在酪氨酸激酶抑制剂治疗下表现出良好的临床结局。我们的数据全面概述了肺癌中致癌激酶融合的情况,有助于识别可转化为治疗应用的潜在可靶向融合。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fac/8433182/adb8f6325726/41698_2021_221_Fig1_HTML.jpg

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