期刊论文详细信息
Frontiers in Oncology
Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study
Wei-Qiang Liao1  Dong-Yang Li2  Bo-Long Liu2  Xiang-Fu Zhou2  Fei Yang2  Yun Luo2  Hai-Lun Zhan2  Wen-Biao Li2  Jia-Rong Cai2 
[1] Department of Urology, Luoding People’s Hospital, Luoding, China;Department of Urology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China;
关键词: deep sequencing;    genomic alteration;    Chinese;    bladder urothelial carcinoma;    tumor mutation burden;   
DOI  :  10.3389/fonc.2021.538927
来源: DOAJ
【 摘 要 】

ObjectiveBladder urothelial carcinoma (BUC) is a common urological malignancy with molecular heterogeneity. However, the genetic feature of Chinese BUC patients is still not well-identified.MethodsWe 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.ResultsThe frequencies of GAs (TERT, 54.5%; CREBBP, 27.3%; GATA3, 22.7%; BRAF, 18.2%; TEK, 18.2% and GLI1, 18.2%) were significantly higher in Chinese than Western BUC patients. Other GAs’ frequencies were in accordance with previous study (TP53, 50.0%; KDM6A, 31.8%; KMT2D, 22.7%; etc.). Besides, we detected gene amplification in ERBB2, FRS2, FAS, 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 (P = 0.025).ConclusionDeep genomic sequencing of BUC can provide new clues on the unique GAs of Chinese patients and assist in therapeutic decision.

【 授权许可】

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