新加坡A*STAR基因组研究所Weiwei Zhai 、Axel M. Hillmer和Daniel Shao Weng Tan研究团队合作探究了东亚地区肺腺癌患者的基因组特性。相关论文发表在2020年2月3日出版的《自然-遗传学》杂志上。

通过对东亚（EAS；n =305）肺腺癌（LUAD）个体大型基因组和转录组数据集进行测序和整合，研究人员发现与欧洲人LUAD患者相比，东亚LUAD患者具有更稳定的基因组，其特征是突变少、拷贝数变化少。与不吸烟者相比，吸烟者的这种差异更为明显。

转录组学研究确定了一个新的EAS特异性LUAD亚组，其基因组图谱简明，免疫相关基因上调，从而使基于免疫疗法的治疗成为可能。跨临床和分子特征的综合分析显示了分子表型在患者预后分期中的重要性。EAS LUADs的预测准确度比欧洲人种的预测准确度高，这可能是因为它们的基因组结构不那么复杂。

这项研究阐明了EAS LUAD的全面基因组特征，并强调了这两个队列之间重要的种系差异。

研究人员表示，肺癌是世界上造成癌症死亡的主要原因，并且在血系上存在巨大差异。

附：英文原文

Title: Genomic landscape of lung adenocarcinoma in East Asians

Author: Jianbin Chen, Hechuan Yang, Audrey Su Min Teo, Lidyana Bte Amer, Faranak Ghazi Sherbaf, Chu Quan Tan, Jacob Josiah Santiago Alvarez, Bingxin Lu, Jia Qi Lim, Angela Takano, Rahul Nahar, Yin Yeng Lee, Cheryl Zi Jin Phua, Khi Pin Chua, Lisda Suteja, Pauline Jieqi Chen, Mei Mei Chang, Tina Puay Theng Koh, Boon-Hean Ong, Devanand Anantham, Anne Ann Ling Hsu, Apoorva Gogna, Chow Wei Too, Zaw Win Aung, Yi Fei Lee, Lanying Wang, Tony Kiat Hon Lim, Andreas Wilm, Poh Sum Choi, Poh Yong Ng, Chee Keong Toh, Wan-Teck Lim, Siming Ma, Bing Lim, Jin Liu, Wai Leong Tam, Anders Jacobsen Skanderup, Joe Poh Sheng Yeong, Eng-Huat Tan, Caretha L. Creasy, Daniel Shao Weng Tan, Axel M. Hillmer, Weiwei Zhai

Issue&Volume: 2020-02-03

Abstract: Lung cancer is the world’s leading cause of cancer death and shows strong ancestry disparities. By sequencing and assembling a large genomic and transcriptomic dataset of lung adenocarcinoma (LUAD) in individuals of East Asian ancestry (EAS; n=305), we found that East Asian LUADs had more stable genomes characterized by fewer mutations and fewer copy number alterations than LUADs from individuals of European ancestry. This difference is much stronger in smokers as compared to nonsmokers. Transcriptomic clustering identified a new EAS-specific LUAD subgroup with a less complex genomic profile and upregulated immune-related genes, allowing the possibility of immunotherapy-based approaches. Integrative analysis across clinical and molecular features showed the importance of molecular phenotypes in patient prognostic stratification. EAS LUADs had better prediction accuracy than those of European ancestry, potentially due to their less complex genomic architecture. This study elucidated a comprehensive genomic landscape of EAS LUADs and highlighted important ancestry differences between the two cohorts.

DOI: 10.1038/s41588-019-0569-6

Source: https://www.nature.com/articles/s41588-019-0569-6