Shi Huashan, Seegobin Karan, Heng Fei, Zhou Kexun, Chen Ruqin, Qin Hong, Manochakian Rami, Zhao Yujie, Lou Yanyan
Department of Cancer Biology, Mayo Clinic, Jacksonville, FL, United States.
Department of Hematology and Oncology, Mayo Clinic, Jacksonville, FL, United States.
Front Oncol. 2022 Sep 28;12:946625. doi: 10.3389/fonc.2022.946625. eCollection 2022.
Lung adenocarcinoma is a molecularly heterogeneous disease. Several studies, including The Cancer Genome Atlas Research Network (TCGA) and Lung Cancer Mutation Consortium (LCMC), explored the genetic alterations among different ethnic groups. However, minority groups are often under-represented in these relevant studies and the genomic alterations among racial groups are not fully understood.
We analyze genomic characteristics among racial groups to understand the diversities and their impact on clinical outcomes.
Native Americans had significantly higher rates of insertions and deletions than other races (P<0.001). Among patients with lung adenocarcinomas, EGFR and KRAS were the highest discrepancy genes in the different racial groups (P<0.001). The EGFR exon 21 L858R point mutation was three times higher in Asians than in all other races (P<0.001). Asians, Whites, and Blacks had 4.7%, 3.1%, and 1.8% ALK rearrangement, respectively (P<0.001). White patients had the highest rates of reported KRAS G12C (15.51%) than other races (P<0.001). Whites (17.2%), Blacks (15.1%), and Other (15.7%) had higher rates of STK11 mutation than Asians (3.94%) (P<0.001). RET rearrangement and ERBB2 amplification were more common in Asian patients than in Other racial groups. Apart from point mutations, structural variations, and fusion genes, we identified a significant amount of copy number alterations in each race.
The tumor genomic landscape is significantly distinct in different races. This data would shed light on the understanding of molecular alterations and their impacts on clinical management in different lung cancer patients.
肺腺癌是一种分子异质性疾病。包括癌症基因组图谱研究网络（TCGA）和肺癌突变联盟（LCMC）在内的多项研究探索了不同种族群体之间的基因改变。然而，少数群体在这些相关研究中的代表性往往不足，种族群体之间的基因组改变尚未完全了解。
我们分析种族群体之间的基因组特征，以了解其多样性及其对临床结果的影响。
美洲原住民的插入和缺失率显著高于其他种族（P<0.001）。在肺腺癌患者中，EGFR和KRAS是不同种族群体中差异最大的基因（P<0.001）。EGFR外显子21 L858R点突变在亚洲人中的发生率是所有其他种族的三倍（P<0.001）。亚洲人、白人和黑人的ALK重排率分别为4.7%、3.1%和1.8%（P<0.001）。白人患者报告的KRAS G12C发生率最高（15.51%），高于其他种族（P<0.001）。白人（17.2%）、黑人（15.1%）和其他种族（15.7%）的STK11突变率高于亚洲人（3.94%）（P<0.001）。RET重排和ERBB2扩增在亚洲患者中比在其他种族群体中更常见。除了点突变、结构变异和融合基因外，我们在每个种族中都发现了大量的拷贝数改变。
不同种族的肿瘤基因组格局存在显著差异。这些数据将有助于理解不同肺癌患者的分子改变及其对临床管理的影响。
