Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study

Frontiers in Oncology

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】

Unknown