Department of Oncology, Ganzhou People's Hospital, the Affiliated Ganzhou Hospital of Nanchang University, Ganzhou.
Department of Oncology, Shihezi University School of Medicine, the First Affiliated Hospital, Shihezi.
Medicine (Baltimore). 2021 Jan 29;100(4):e24159. doi: 10.1097/MD.0000000000024159.
The incidence of non-small cell lung cancer (NSCLC) in Uygur population is gradually increasing recently. In view of the great diagnostic and prognostic values of cell-free DNAs (cfDNA) detection, this study focus on a liquid biopsy to explore the value of cfDNA mutation in healthy and NSCLC patients in 2 ethnicities.
The concentration and sequencing of cfDNA in NSCLC and healthy subjects was assessed with a standard information analysis procedure, including detection, annotation, and statistical analysis. Gene ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses were conducted to analyze the function of mutant genes and related pathways. Totally, 133 subjects, including 35 Uygur NSCLC patients, 10 Uygur healthy subjects, 63 cases of Han NSCLC patients and 25 Han health control, were admitted to the hospital.
There were a lower proportion of adenocarcinoma and higher percentage of smoking rate for Uygur patients. For cfDNA level between NSCLC and healthy subjects, Han patients exhibited sharp increase while there was no statistical difference in Uygur population. In addition, the mutation frequency of cfDNA in Han patients (72.6%) was significantly higher than Uygur patients (45.7%). There were 5 gene mutations only found in Han patients and ABCC11 showed a higher mutation frequency in Uygur population as a common one. Finally, Go and Kyoto Encyclopedia of Genes and Genomes analysis showed apprent functional enrichments and pathway changes between 2 ethnicities.
There existed distinct distributions of cancer subtypes, smoking proportion, cfDNA level, and mutation patterns between Han and Uygur patients. The results may be a useful tool in NSCLC patients' diagnosis as well as individualized therapy between ethnicities in future.
维吾尔族人群中非小细胞肺癌（NSCLC）的发病率近年来逐渐升高。鉴于游离 DNA（cfDNA）检测具有重要的诊断和预后价值，本研究聚焦于液体活检，旨在探索 cfDNA 突变在两个民族的健康人群和 NSCLC 患者中的价值。
采用标准信息分析程序评估 NSCLC 患者和健康受试者 cfDNA 的浓度和测序，包括检测、注释和统计分析。进行基因本体论和京都基因与基因组百科全书通路分析，以分析突变基因及其相关通路的功能。共纳入 133 例受试者，包括 35 例维吾尔族 NSCLC 患者、10 例维吾尔族健康对照者、63 例汉族 NSCLC 患者和 25 例汉族健康对照者。
维吾尔族患者中腺癌比例较低，吸烟率较高。在 NSCLC 患者和健康对照者之间，汉族患者 cfDNA 水平显著升高，而维吾尔族患者则无统计学差异。此外，汉族患者 cfDNA 的突变频率（72.6%）显著高于维吾尔族患者（45.7%）。汉族患者中存在 5 种仅在汉族患者中发现的基因突变，ABCC11 作为常见突变在维吾尔族人群中显示出更高的突变频率。最后，GO 和京都基因与基因组百科全书分析显示，两个民族之间存在明显的功能富集和通路变化。
汉族和维吾尔族 NSCLC 患者在癌症亚型分布、吸烟比例、cfDNA 水平和突变模式方面存在明显差异。这些结果可能为未来不同民族 NSCLC 患者的诊断和个体化治疗提供有用的工具。
