Identification of potential therapeutic targets in urothelial bladder carcinoma of Chinese population by targeted next-generation sequencing

Figures & data

Table 1. Clinical information of BCa patients in our study.

Clinicopathological features		n	%
Gender	M	27	84.375
	F	5	15.625
Age	<60	14	43.75
	≥60	18	56.25
Maximum diameter of mass	<5 cm	27	84.4
	≥5 cm	5	15.6
TNM stage	I	16	50
	II	8	25
	III	3	9.375
	IV	5	15.625
Lymph node status	≥1	2	6.25
	0	30	93.75
Degree of differentiation	G1	16	50
	G2-G3	14	50
classification	NMIBC	16	50
	MIBC	16	50

Abbreviations: NMIBC, non-muscle invasive bladder cancer; MIBC, muscle-invasive bladder cancer.

Table 2. Summary of gene mutation frequency in 32 BCa tissues.

Gene	Gene ID	Description	Mutation frequency (Total/NMIBC/MIBC, %)
FGFR3	NM_000142.4	fibroblast growth factor receptor 3	31.3/50/12.5
KMT2D	NM_003482.3	lysine methyltransferase 2D	18.8/31.3/6.3
TP53	NM_000546.5	tumor protein p53	12.5/0/25
ARID1A	NM_006015.5	AT-rich interaction domain 1A	12.5/18.8/6.3
AKT1	NM_005163.2	AKT serine/threonine kinase 1	12.5/25/0
KDM6A	NM_021140.3	lysine demethylase 6A	9.4/6.3/12.5
STAG2	NM_001042749.2	stromal antigen 2	9.4/18.8/0
LRP1B	NM_018557.2	LDL receptor related protein 1B	9.4/12.5/6.3
HRAS	NM_005343.3	HRas proto-oncogene, GTPase	6.3/12.5/0
CREBBP	NM_004380.2	CREB binding protein	6.3/0/12.5
ERCC2	NM_000400.3	ERCC excision repair 2, TFIIH core complex helicase subunit	6.3/0/12.5
EP300	NM_001429.3	E1A binding protein p300	6.3/0/12.5
ATM	NM_000051.3	ATM serine/threonine kinase	6.3/12.5/0
FAT1	NM_005245.3	FAT atypical cadherin 1	6.3/6.3/6.3
ERBB2	NM_004448.3	erb-b2 receptor tyrosine kinase 2	3.1/6.3/0
XIRP2	NM_001024618.2	xin actin-binding repeat containing 2	3.1/6.3/0
ERBB3	NM_001982.4	erb-b2 receptor tyrosine kinase 3	3.1/12.5/6.25
DCHS2	NM_001358235.1	dachsous cadherin-related 2	3.1/12.5/12.5
CACNA1D	NM_000720.3	calcium voltage-gated channel subunit alpha1 D	3.1/0/6.3
RANBP2	NM_006267.4	RAN binding protein 2	3.1/6.3/0
FBXW7	NM_033632.3	F-box and WD repeat domain containing 7	3.1/0/6.3
BRCA2	NM_000059.3	BRCA2, DNA repair associated	3.1/6.3/0
EGFR	NM_005228.5	epidermal growth factor receptor	3.1/6.3/0
RARG	NM_000966.6	retinoic acid receptor gamma	3.1/6.3/0
OBSCN	NM_052843.3	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3.1/0/6.3
RBM10	NM_005676.4	RNA binding motif protein 10	3.1/6.3/0
ZFP36L1	NM_004926.3	ZFP36 ring finger protein like 1	3.1/6.3/0
CCND1	NM_053056.2	cyclin D1	3.1/0/6.3
RAF1	NM_002880.3	Raf-1 proto-oncogene, serine/threonine kinase	3.1/6.3/0

Abbreviations: NMIBC, non-muscle invasive bladder cancer; MIBC, muscle-invasive bladder cancer.

Figure 1. The genomic landscape of bladder cancer. (a) Targeted NGS analysis of the mutated genes in 32 bladder cancer samples. (b) ICGC data showing the mutated genes in 103 bladder cancer samples of Chinese Han population.

Figure 2. Twenty-nine mutated genes in NMIBC and MIBC tissues assayed by Targeted NGS. (a) Gene mutation frequency in NMIBC. (b) Gene mutation frequency in MIBC. Abbreviations: NMIBC, non-muscle invasive bladder cancer; MIBC, muscle-invasive bladder cancer.

Figure 3. KEGG gene enrichment analysis showed that these mutated genes are highly correlated with 30 physiological and pathological pathways.

Figure 4. Reactome program revealed that these mutated genes were enriched in signaling pathways which were implicated into cancer development.