AUTHOR=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 

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

JOURNAL=Frontiers in Oncology

VOLUME=11

YEAR=2021

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2021.538927

DOI=10.3389/fonc.2021.538927

ISSN=2234-943X

ABSTRACT=<sec><title>Objective</title><p>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.</p></sec><sec><title>Methods</title><p>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.</p></sec><sec><title>Results</title><p>The frequencies of GAs (<italic>TERT</italic>, 54.5%; <italic>CREBBP</italic>, 27.3%; <italic>GATA3</italic>, 22.7%; <italic>BRAF</italic>, 18.2%; <italic>TEK</italic>, 18.2% and <italic>GLI1</italic>, 18.2%) were significantly higher in Chinese than Western BUC patients. Other GAs’ frequencies were in accordance with previous study (<italic>TP53</italic>, 50.0%; <italic>KDM6A</italic>, 31.8%; <italic>KMT2D</italic>, 22.7%; etc.). Besides, we detected gene amplification in <italic>ERBB2, FRS2, FAS</italic>, 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 (<italic>P</italic> = 0.025).</p></sec><sec><title>Conclusion</title><p>Deep genomic sequencing of BUC can provide new clues on the unique GAs of Chinese patients and assist in therapeutic decision.</p></sec>