Zhang Xiaoying, Zhang Yangde
National Hepatobiliary and Enteric Surgery Research Center, Ministry of Health, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
Cell Biochem Biophys. 2015 Sep;73(1):65-9. doi: 10.1007/s12013-015-0574-z.
The most common type of urinary bladder cancer is called as transitional cell carcinoma. The major risk factors for bladder cancer are environmental, tobacco smoking, exposure to toxic industrial chemicals and gases, bladder inflammation due to microbial and parasitic infections, as well as some adverse side-effects of medications. The genetic mutations in some chromosomal genes, such as FGFR3, RB1, HRAS, TP53, TSC1, and others, occur which form tumors in the urinary bladder. These genes play an important role in the regulation of cell division which prevents cells from dividing too quickly. The changes in the genes of human chromosome 9 are usually responsible for tumor in bladder cancer, but the genetic mutation of chromosome 22 can also result in bladder cancer. The identification of p53 gene mutation has been studied at NIH, Washington, DC, USA, in urine samples of bladder cancer patients. The invasive bladder cancers were determined for the presence of gene mutations on p53 suppressor gene. The 18 different bladder tumors were evaluated, and 11 (61 %) had genetic mutations of p53 gene. The bladder cancer studies have suggested that 70 % of bladder cancers involve a specific mutation in a particular gene, namely telomerase reverse transcriptase (TERT) gene. The TERT gene is involved in DNA protection, cellular aging processes, and cancer. The Urothelial carcinomas of the bladder have been described in Atlas of genetics and cytogenetics in oncology and hematology. HRAS is a proto-oncogene and has potential to cause cancer in several organs including the bladder. The TSC1 c. 1907 1908 del (E636fs) mutation in bladder cancer suggests that the location of the mutation is Exon 15 with frequency of TSC1 mutation of 11.7 %. The recent findings of BAP1 mutations have shown that it contributes to BRCA pathway alterations in bladder cancer. The discoveries of more gene mutations and new biomarkers and polymerase chain reaction bioassays for gene mutations in bladder cancer need further research.
最常见的膀胱癌类型称为移行细胞癌。膀胱癌的主要风险因素包括环境因素、吸烟、接触有毒工业化学品和气体、微生物和寄生虫感染引起的膀胱炎症,以及某些药物的不良副作用。一些染色体基因如FGFR3、RB1、HRAS、TP53、TSC1等发生基因突变,从而在膀胱中形成肿瘤。这些基因在调节细胞分裂中起重要作用,可防止细胞过度快速分裂。人类9号染色体基因的变化通常是膀胱癌肿瘤形成的原因,但22号染色体的基因突变也可导致膀胱癌。美国华盛顿特区国立卫生研究院对膀胱癌患者的尿液样本进行了p53基因突变的鉴定研究。对浸润性膀胱癌进行p53抑癌基因突变的检测。评估了18种不同的膀胱肿瘤,其中11种(61%)存在p53基因突变。膀胱癌研究表明,70%的膀胱癌涉及一个特定基因即端粒酶逆转录酶(TERT)基因的特定突变。TERT基因参与DNA保护、细胞衰老过程和癌症发生。膀胱尿路上皮癌在《肿瘤学和血液学的遗传学与细胞遗传学图谱》中有描述。HRAS是一种原癌基因,有可能在包括膀胱在内的多个器官中引发癌症。膀胱癌中TSC1基因c.1907 1908 del(E636fs)突变表明该突变位于第15外显子,TSC1基因突变频率为11.7%。BAP1基因突变的最新研究结果表明,它在膀胱癌中导致BRCA通路改变。对于膀胱癌中更多基因突变、新生物标志物以及基因突变的聚合酶链反应生物测定法的发现,还需要进一步研究。