中国南方膀胱尿路上皮癌患者的深度基因组测序：一项单中心研究
Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.
作者信息
Li Dong-Yang, Yang Fei, Liao Wei-Qiang, Zhou Xiang-Fu, Li Wen-Biao, Cai Jia-Rong, Liu Bo-Long, Luo Yun, Zhan Hai-Lun
机构信息
Department of Urology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Department of Urology, Luoding People's Hospital, Luoding, China.
出版信息
Front Oncol. 2021 May 14;11:538927. doi: 10.3389/fonc.2021.538927. eCollection 2021.
OBJECTIVE
Bladder urothelial carcinoma (BUC) is a common urological malignancy with molecular heterogeneity. However, the genetic feature of Chinese BUC patients is still not well-identified.
METHODS
We performed deep sequencing by a large panel (450 genes) on 22 BUC samples and using matched normal bladder tissue as control. Genomic alterations (GAs), pathways and Tumor Mutation Burden (TMB) were investigated.
RESULTS
The frequencies of GAs (, 54.5%; , 27.3%; , 22.7%; , 18.2%; , 18.2% and , 18.2%) were significantly higher in Chinese than Western BUC patients. Other GAs' frequencies were in accordance with previous study (, 50.0%; , 31.8%; , 22.7%; etc.). Besides, we detected gene amplification in , etc. The gene fusion/rearrangement took place in the chromosome 11, 12, 14, 17, 19, 22, and Y. Other than cell cycle and PI3K-AKT-mTOR, mutated genes were more associated with the transcription factor, chromatin modification signaling pathways. Interestingly, the TMB value was significantly higher in the BUC patients at stages T1-T2 than T3-T4 ( = 0.025).
CONCLUSION
Deep genomic sequencing of BUC can provide new clues on the unique GAs of Chinese patients and assist in therapeutic decision.
目的
膀胱尿路上皮癌（BUC）是一种具有分子异质性的常见泌尿系统恶性肿瘤。然而，中国BUC患者的基因特征仍未得到充分明确。
方法
我们对22例BUC样本进行了大panel（450个基因）深度测序，并以匹配的正常膀胱组织作为对照。研究了基因组改变（GAs）、信号通路和肿瘤突变负荷（TMB）。
结果
中国BUC患者的GAs频率（，54.5%；，27.3%；，22.7%；，18.2%；，18.2%和，18.2%）显著高于西方BUC患者。其他GAs频率与先前研究一致（，50.0%；，31.8%；，22.7%等）。此外，我们检测到了等基因的扩增。基因融合/重排在11、12、14、17、19、22和Y染色体上发生。除细胞周期和PI3K-AKT-mTOR外，突变基因与转录因子、染色质修饰信号通路的相关性更强。有趣的是，T1-T2期BUC患者的TMB值显著高于T3-T4期（=0.025）。
结论
BUC的深度基因组测序可为中国患者独特的GAs提供新线索，并有助于治疗决策。
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