The genetic difference between Western and Chinese urothelial cell carcinomas: infrequent FGFR3 mutation in Han Chinese patients.
The genetic difference between Western and Chinese urothelial cell carcinomas: infrequent FGFR3 mutation in Han Chinese patients.
复制标题
西方和中国尿路上皮细胞癌的遗传差异：中国汉族患者中罕见的 FGFR3 突变。
DOI：
10.18632/oncotarget.8404
复制
发表时间：
2016-05-03
期刊：
影响因子：
--
通讯作者：
Xu D
中科院分区：
文献类型：
--
作者：
Yuan X;Liu C;Wang K;Liu L;Liu T;Ge N;Kong F;Yang L;Björkholm M;Fan Y;Zhao S;Xu D
尿路上皮细胞癌（UCC）包括膀胱尿路上皮癌（UBC）、肾盂癌（RPC）和输尿管癌（UC），其发病率因地理区域和肿瘤部位而异，这表明不同的致癌机制和/或不同的遗传易感性/环境暴露。成纤维细胞生长因子受体3（FGFR 3）基因和端粒酶逆转录酶（TERT）启动子的激活突变是UCC中最常见的遗传事件。这些突变在UCC初始诊断、预后、复发监测和管理中具有临床效用。然而，绝大多数的结果是从西方国家的UCC患者的研究中获得的，而对中国汉族患者的研究知之甚少。本研究采用桑格测序技术对116例UBC、91例RPC和115例UC患者的FGFR 3基因和TERT启动子进行了突变筛查。在这些UCC患者中，TERT启动子突变发生频率很高，与西方患者中观察到的频率相当，然而，FGFR 3突变令人惊讶地较低，分别为UBC的9.4%，RPC的8.8%和UC的2.6%。总之，FGFR 3基因是中国汉族UCC发病机制中的一个罕见靶点，其突变检测和靶向治疗在这些患者中的临床应用有限。我们的研究结果强调了对来自不同患者人群的癌症基因组进行广泛表征的必要性，从而有助于癌症治疗和预防的精准医学。
Urothelial cell carcinoma (UCC) includes urothelial bladder carcinoma (UBC), renal pelvic carcinoma (RPC) and ureter carcinoma (UC), and its incidence varies dependent on geographical areas and tumor locations, which indicates different oncogenic mechanisms and/or different genetic susceptibility/environment exposure. The activating mutations of the fibroblast growth factor receptor 3 (FGFR3) gene and telomerase reverse transcriptase (TERT) promoter are the most frequent genetic events in UCCs. These mutations have clinical utilities in UCC initial diagnostics, prognosis, recurrence monitoring and management. However, the vast majority of the results are obtained from studies of UCC patients in Western countries, and little has been known about these in Han Chinese patients. In the present study, we screened the FGFR3 gene and TERT promoter for mutations in 116 UBC, 91 RPC and 115 UC tumors from Han Chinese patients by using Sanger Sequencing. TERT promoter mutations occurred at a high frequency in these UCC patients, comparable with that seen in Western patients, however, the FGFR3 mutation was surprisingly lower, only 9.4% for UBCs, 8.8% for RPCs and 2.6% for UCs, respectively. Taken together, the FGFR3 gene is an infrequent target in the pathogenesis of Han Chinese UCCs, and its mutation detection and targeted therapy have limited clinical utility in these patients. Our results underscore the need for extensive characterization of cancer genomes from diverse patient populations, thereby contributing to precision medicine for cancer treatment and prevention.
登录
查看更多内容
影响因子：
23.4
作者：
Sfakianos JP;Cha EK;Iyer G;Scott SN;Zabor EC;Shah RH;Ren Q;Bagrodia A;Kim PH;Hakimi AA;Ostrovnaya I;Ramirez R;Hanrahan AJ;Desai NB;Sun A;Pinciroli P;Rosenberg JE;Dalbagni G;Schultz N;Bajorin DF;Reuter VE;Berger MF;Bochner BH;Al-Ahmadie HA;Solit DB;Coleman JA
通讯作者：
Coleman JA
影响因子：
3.4
作者：
Knowles MA
通讯作者：
Knowles MA
影响因子：
10.3
作者：
Yoon, Harry H.;Shi, Qian;Sinicrope, Frank A.
通讯作者：
Sinicrope, Frank A.
影响因子：
23.4
作者：
Allory, Yves;Beukers, Willemien;Real, Francisco X.
通讯作者：
Real, Francisco X.
影响因子：
6.4
作者：
Hosen, Ismail;Rachakonda, P. Sivaramakrishna;Kumar, Rajiv
通讯作者：
Kumar, Rajiv