Izumi Motohiro, Suzumura Tomohiro, Ogawa Koichi, Matsumoto Yoshiya, Sawa Kenji, Yoshimoto Naoki, Tani Yoko, Watanabe Tetsuya, Kaneda Hiroyasu, Mitsuoka Shigeki, Asai Kazuhisa, Kawaguchi Tomoya
Department of Respiratory Medicine, Graduate School of Medicine, Osaka City University, Osaka, Japan.
Department of Clinical Oncology, Graduate School of Medicine, Osaka City University, Osaka, Japan.
J Thorac Dis. 2020 Jul;12(7):3776-3784. doi: 10.21037/jtd.2019.08.61.
Differences in carcinogenesis and therapeutic efficacy according to ethnicity have been reported for lung cancer, and understanding differences in genetic mutation profiles among ethnicities is important for interpreting the results of clinical trials, preventing carcinogenesis, and individualizing treatment. However, no studies have focused on differences in mutation profiles among different ethnicities using large-scale genomic analysis data with detailed information on smoking history, the main cause of lung cancer.
To clarify the differences in genetic mutation profiles between Caucasian and Japanese subjects, we compared data from The Cancer Genome Atlas, which mainly included Caucasians, with results from the Japan Molecular Epidemiology for lung cancer study, which is an epidemiological study only involving Japanese subjects. We divided the participants into four groups according to smoking status and performed comparative analysis by tissue type (lung adenocarcinoma and squamous cell lung cancer).
In patients with lung adenocarcinoma, the frequency of mutations was lower in Caucasian subjects than in Japanese subjects (14.6% 51.1%), whereas the frequencies of mutations in other genes, namely (32.9% 9.3%), (45.2% 20.7%), (9.6% 1.3%), (5.9% 2.6%), (17.8% 0.5%), (10.9% 0.5%), (17.8% 0.7%), (8.7% 0.1%), and (7.8% 0.1%), were higher in Caucasian subjects. Among patients with squamous cell carcinoma, (81.2% 49.1%), (14.5% 6.8%), (12.7% 0.9%), and mutations (15.8% 13.6%) were more common in Caucasian subjects.
Ethnicity is an important and complex characteristic that must be recognized and considered, even in the era of precision medicine. We should collaborate to share data for different ethnicities and incorporate them into clinical practice and the design of global clinical studies. Carefully designed molecular epidemiological studies focusing on ethnic differences are warranted.
肺癌的致癌作用和治疗效果在不同种族间存在差异,了解不同种族间基因突变谱的差异对于解释临床试验结果、预防癌症发生以及实现个体化治疗至关重要。然而,尚无研究利用包含吸烟史详细信息(肺癌的主要病因)的大规模基因组分析数据,聚焦于不同种族间突变谱的差异。
为阐明白种人和日本受试者之间基因突变谱的差异,我们将主要包含白种人的癌症基因组图谱数据与仅涉及日本受试者的日本肺癌分子流行病学研究结果进行了比较。我们根据吸烟状况将参与者分为四组,并按组织类型(肺腺癌和肺鳞状细胞癌)进行了比较分析。
在肺腺癌患者中,白种人受试者的 突变频率低于日本受试者(14.6% 对 51.1%),而其他基因的突变频率,即 (32.9% 对 9.3%)、 (45.2% 对 20.7%)、 (9.6% 对 1.3%)、 (5.9% 对 2.6%)、 (17.8% 对 0.5%)、 (10.9% 对 0.5%)、 (17.8% 对 0.7%)、 (8.7% 对 0.1%)和 (7.8% 对 0.1%),白种人受试者更高。在肺鳞状细胞癌患者中, (81.2% 对 49.1%)、 (14.5% 对 6.8%)、 (12.7% 对 0.9%)和 突变(15.8% 对 13.6%)在白种人受试者中更常见。
即使在精准医学时代,种族也是一个必须被认识和考虑的重要且复杂的特征。我们应合作共享不同种族的数据,并将其纳入临床实践和全球临床研究设计中。开展精心设计的关注种族差异的分子流行病学研究很有必要。