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非小细胞肺癌中的外显子20插入突变和外显子14跳跃突变:一项针对中国人群的范围综述

exon 20 insertion mutation and exon 14 skipping mutation in non-small cell lung cancer: a scoping review in the Chinese population.

作者信息

Yang Xiao-Rong, Zhong Si-Min, Jin Zhen-Yi, Gào Xīn, Wu Ying, Zhou Qing, Li Yang-Qiu, Liu Si-Yang Maggie, Wu Yi-Long

机构信息

School of Medicine South China University of Technology, Guangzhou, China.

Guangdong Lung Cancer Institute, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.

出版信息

Transl Lung Cancer Res. 2024 Nov 30;13(11):3224-3240. doi: 10.21037/tlcr-24-528. Epub 2024 Nov 25.

Abstract

BACKGROUND

Epidermal growth factor receptor () and mesenchymal-epithelial transition () gene mutations are well established in the pathogenesis of non-small cell lung cancer (NSCLC). However, there is limited understanding about the impact of rare variants, such as exon 20 insertion mutation (ex20ins) and exon 14 skipping mutation (ex14) in the Chinese population even though targeted therapies have been approved in China. We conducted a scoping review to assess the current available evidence of these two mutations in NSCLC in the Chinese population.

METHODS

Electronic searches were performed before November 2023. Two investigators independently collected data. Any discrepancies were resolved through discussion with a senior investigator.

RESULTS

We identified 111 studies, involving a total of 159,993 NSCLC Chinese patients. Of the 111 studies, 76 studies reported on ex20ins and 45 reported on ex14. When we evaluated the frequency from studies with at least 1,000 patients, the frequency of ex20ins ranged from 0.02-2.85% of all NSCLC patients and 0.56-6.90% of all mutations. The frequency of ex14 ranged from 0.08-1.38% of all NSCLC patients and 8.33-56.60% of all MET mutations. The treatments for NSCLC with ex20ins varied depending on the study, and all available treatments have limited therapeutic efficacy and a relatively poor prognosis, and fewer studies have examined the efficacy and effectiveness of treatments for NSCLC with ex14 mutation in the Chinese population.

CONCLUSIONS

Despite the recent approval of three targeted therapies in China, there is still insufficient evidence regarding their optimal treatment and therapeutic efficacy for Chinese patients. Further large-scale studies are needed to establish links between these mutations and clinical features at baseline and following treatment. Furthermore, moving forward, the development of novel drugs will be essential to fulfill the clinical unmet needs.

摘要

背景

表皮生长因子受体(EGFR)和间充质-上皮转化(MET)基因突变在非小细胞肺癌(NSCLC)的发病机制中已得到充分证实。然而,尽管靶向治疗已在中国获批,但对于中国人群中罕见变异的影响,如EGFR外显子20插入突变(ex20ins)和MET外显子14跳跃突变(ex14),人们的了解仍然有限。我们进行了一项范围综述,以评估中国人群NSCLC中这两种突变的现有证据。

方法

在2023年11月之前进行了电子检索。两名研究人员独立收集数据。任何差异都通过与资深研究人员讨论来解决。

结果

我们确定了111项研究,共涉及159,993例中国NSCLC患者。在这111项研究中,76项研究报告了ex20ins,45项报告了ex14。当我们评估至少有1000例患者的研究中的频率时,ex20ins在所有NSCLC患者中的频率范围为0.02 - 2.85%,在所有EGFR突变中的频率范围为0.56 - 6.90%。ex14在所有NSCLC患者中的频率范围为0.08 - 1.38%,在所有MET突变中的频率范围为8.33 - 56.60%。ex20ins的NSCLC治疗方法因研究而异,所有可用治疗的疗效有限且预后相对较差,而针对中国人群中ex14突变的NSCLC治疗效果和有效性的研究较少。

结论

尽管最近三种靶向治疗在中国获批,但关于其对中国患者的最佳治疗方法和疗效仍缺乏足够证据。需要进一步的大规模研究来建立这些突变与基线及治疗后临床特征之间的联系。此外,展望未来,开发新药对于满足临床未满足的需求至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e56d/11632427/e47874c2ec57/tlcr-13-11-3224-f1.jpg

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