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中国西南部云南省曲靖市非小细胞肺癌患者驱动基因突变的独特特征

Unique Profile of Driver Gene Mutations in Patients With Non-Small-Cell Lung Cancer in Qujing City, Yunnan Province, Southwest China.

作者信息

Zhou Yongchun, Ge Feng, Du Yaxi, Li Quan, Cai Jingjing, Liu Xin, Guo Yinjin, Shen Zhenghai, Duan Lincan, Huang Zhan, Yao Fei, Zhu Changbin, Shi Hutao, Huang Yunchao

机构信息

Molecular Diagnosis Sub Center of Yunnan Cancer Center, Yunnan Cancer Molecular Diagnosis Center, The Third Affiliated Hospital of Kunming Medical University (Yunnan Tumor Hospital), Kunming, China.

Yunnan Provincial Key Laboratory of Panax notoginseng, Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, China.

出版信息

Front Oncol. 2021 Apr 13;11:644895. doi: 10.3389/fonc.2021.644895. eCollection 2021.

DOI:10.3389/fonc.2021.644895
PMID:33928034
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8076749/
Abstract

OBJECTIVE

Qujing City, Yunnan Province, China, has a high incidence of lung cancer and related mortality. The etiology of NSCLC in Qujing area and distribution of associated molecular aberrations has not been fully elucidated. This study aimed to reveal the profile of driver gene mutations in patients with non-small-cell lung cancer (NSCLC) in Qujing and explore their relationships with clinicopathological characteristics.

METHODS

In this study, the mutation profiles of NSCLC driver genes, including , and , were investigated in patients with NSCLC from Qujing and compared with those from other regions in Yunnan Province. The associations between molecular mutations and clinicopathological characteristics were further analyzed.

RESULTS

A distinct profile of driver gene mutations was discovered in patients with NSCLC from Qujing. Interestingly, a higher proportion of compound mutations, including G719X + S768I (19.65% vs 3.38%, P < 0.0001) and G719X + L861Q (21.10% vs 2.82%, P < 0.0001), was observed in patients with NSCLC in Qujing compared with patients in non-Qujing area, besides significantly different distributions of (46.01% vs. 51.07%, = 0.0125), (3.17% vs. 6.97%, = 0.0012), (0.5% vs. 2.02%, = 0.0113), and (23.02% vs. 7.85%, < 0.0001). Further, compound mutations were more likely associated with the occupation of patients (living/working in rural areas, e.g., farmers). Moreover, G12C was the dominant subtype (51.11% vs 25.00%, = 0.0275) among patients with NSCLC having mutations in Qujing.

CONCLUSIONS

Patients with NSCLC in Qujing displayed a unique profile of driver gene mutations, especially a higher prevalence of compound mutations and dominant G12C subtype, in this study, indicating a peculiar etiology of NSCLC in Qujing. Therefore, a different paradigm of therapeutic strategy might need to be considered for patients with NSCLC in Qujing.

摘要

目的

中国云南省曲靖市肺癌发病率和相关死亡率较高。曲靖地区非小细胞肺癌(NSCLC)的病因及相关分子畸变分布尚未完全阐明。本研究旨在揭示曲靖非小细胞肺癌患者驱动基因突变特征,并探讨其与临床病理特征的关系。

方法

本研究调查了曲靖NSCLC患者中包括 、 和 在内的NSCLC驱动基因突变谱,并与云南省其他地区患者进行比较。进一步分析分子突变与临床病理特征之间的关联。

结果

在曲靖的NSCLC患者中发现了独特的驱动基因突变特征。有趣的是,与非曲靖地区患者相比,曲靖NSCLC患者中包括G719X + S768I(19.65%对3.38%,P < 0.0001)和G719X + L861Q(21.10%对2.82%,P < 0.0001)在内的 复合突变比例更高,此外 (46.01%对51.07%, = 0.0125)、 (3.17%对6.97%, = 0.0012)、 (0.5%对2.02%, = 0.0113)和 (23.02%对7.85%, < 0.0001)的分布也有显著差异。此外, 复合突变更可能与患者职业(生活/工作在农村地区,如农民)相关。而且,在曲靖有 突变的NSCLC患者中, G12C是主要亚型(51.11%对25.00%, = 0.0275)。

结论

本研究中曲靖的NSCLC患者表现出独特的驱动基因突变特征

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3306/8076749/e8c1fd1a498c/fonc-11-644895-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3306/8076749/aca25ca44d47/fonc-11-644895-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3306/8076749/aeca88a726bc/fonc-11-644895-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3306/8076749/c23d9d73192b/fonc-11-644895-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3306/8076749/8af08e58b99a/fonc-11-644895-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3306/8076749/e8c1fd1a498c/fonc-11-644895-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3306/8076749/aca25ca44d47/fonc-11-644895-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3306/8076749/aeca88a726bc/fonc-11-644895-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3306/8076749/c23d9d73192b/fonc-11-644895-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3306/8076749/8af08e58b99a/fonc-11-644895-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3306/8076749/e8c1fd1a498c/fonc-11-644895-g005.jpg

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