Zhou Yongchun, Liu Xin, Guo Yinjin, Li Zhuoying, Zhu Shunhui, Li Quan, Wang Xiaoxiong, Yang Ruijiao, Shen Zhenghai, Li Hongsheng, Du Yaxi, Ma Luyao, Shen Shaocong, Lan Yunyi, Huang Yunchao
Molecular Diagnostic Center, the Third Affiliated Hospital of Kunming Medical University, Kunming, China.
International Joint Laboratory on High Altitude Regional Cancer, Kunming, China.
Ann Transl Med. 2022 Jul;10(14):782. doi: 10.21037/atm-22-987.
In China, there has never been a comprehensive analysis of lung cancer-associated genetic mutations focused on ethnic minorities in the southwestern region. Our study aimed to provide valuable information on lung cancer-associated genetic alterations for cancer diagnosis and treatment, especially in ethnic minorities.
Retrospective data acquisition was conducted spanning 3 years (2016.01-2019.06) among all patients who were diagnosed with lung cancer at the Third Affiliated Hospital of Kunming Medical University Hospital. A total of 5,167 patients including 373 ethnic minorities were included in this study. Propensity score matching (PSM) was used to eliminate the bias between Han and other ethnic minorities, including gender, age, smoking history, metastasis status, clinical stage, histological type, sample type, region, and Xuanwei origin. All tests were two-tailed, and significance was defined as P less than 0.05.
In terms of the prevalence of , L858R, T790M, , , , , and mutations, there was no significant difference among ethnic groups in Yunnan Province (P>0.05). A higher proportion of 19 deletion was observed in Hui patients with lung cancer compared with patients of other ethnicities in Yunnan (P=0.048). The prevalence of mutations was higher in Hani (17.65%, 3/17) and Han patients (11.44%, 80/699) than that in other Yunnan ethnicities (6.04%, 9/149; P=0.07). In Hui patients, fusion was correlated with a history of non-smoking and male gender. In Bai patients, mutation was also correlated with a history of non-smoking. In all ethnic groups, mutation was more frequent in women.
This study is the first in-depth large case-control study on genetic mutation profiles among multi-ethnic patients in southwestern China, especially focused on ethnic minorities in this area. Our study may facilitate the understanding of the etiology of this malignant disease and consequently help to reduce the incidence of lung cancer in Yunnan ethnic minority areas.
在中国，从未有过一项针对西南地区少数民族肺癌相关基因突变的全面分析。我们的研究旨在为癌症诊断和治疗，尤其是少数民族的癌症诊断和治疗，提供有关肺癌相关基因改变的有价值信息。
对昆明医科大学第三附属医院确诊为肺癌的所有患者进行了为期3年（2016.01 - 2019.06）的回顾性数据采集。本研究共纳入5167例患者，其中包括373名少数民族患者。采用倾向得分匹配（PSM）方法消除汉族与其他少数民族之间的偏差，包括性别、年龄、吸烟史、转移状态、临床分期、组织学类型、样本类型、地区和宣威籍贯。所有检验均为双侧检验，显著性定义为P小于0.05。
就EGFR、L858R、T790M、KRAS、NRAS、BRAF、PIK3CA和ALK基因突变的发生率而言，云南省各民族之间无显著差异（P>0.05）。与云南其他民族的肺癌患者相比，回族肺癌患者中EGFR 19外显子缺失的比例更高（P = 0.048）。哈尼族（17.65%，3/17）和汉族患者（11.44%，80/699）中KRAS基因突变的发生率高于云南其他民族（6.04%，9/149；P = 0.07）。在回族患者中，EML4-ALK融合与非吸烟史和男性性别相关。在白族患者中，EGFR基因突变也与非吸烟史相关。在所有民族中，EGFR基因突变在女性中更为常见。
本研究是中国西南地区多民族患者基因突变谱的首个深入的大型病例对照研究，尤其关注该地区的少数民族。我们的研究可能有助于了解这种恶性疾病的病因，从而有助于降低云南少数民族地区肺癌的发病率。
