■膀胱尿路上皮癌（BUC）是一种常见的分子异质性泌尿系统恶性肿瘤。然而,中国BUC患者的遗传特征仍未得到很好的鉴定。
■我们对22个BUC样品进行了大面板（450个基因）的深度测序，并使用匹配的正常膀胱组织作为对照。基因组改变（GAs），研究了通路和肿瘤突变负担(TMB)。
■GA的频率（TERT，54.5%;CREBBP,27.3%；GATA3，22.7%；BRAF，18.2%；TEK，中国BUC患者的18.2％和GLI1，18.2％）显着高于西方BUC患者。其他GAs频率与以前的研究一致(TP53，50.0%；KDM6A，31.8%；KMT2D，22.7%等。).此外,我们在ERBB2、FRS2、FAS、等。基因融合/重排发生在染色体11、12、14、17、19、22和Y。除了细胞周期和PI3K-AKT-mTOR，突变基因与转录因子更相关，染色质修饰信号通路。有趣的是,在T1-T2期的BUC患者中,TMB值显著高于T3-T4期(P=0.025).
■BUC的深度基因组测序可以为中国患者独特的GA提供新的线索，并有助于治疗决策。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: The 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).
UNASSIGNED: Deep genomic sequencing of BUC can provide new clues on the unique GAs of Chinese patients and assist in therapeutic decision.
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