TERT promoter mutations in renal cell carcinomas and upper tract urothelial carcinomas.
TERT promoter mutations in renal cell carcinomas and upper tract urothelial carcinomas.
复制标题
肾细胞癌和上尿路尿路上皮癌中的 TERT 启动子突变。
DOI：
10.18632/oncotarget.1829
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发表时间：
2014-04-15
期刊：
影响因子：
--
通讯作者：
Xu D
中科院分区：
文献类型：
--
作者：
Wang K;Liu T;Liu L;Liu J;Liu C;Wang C;Ge N;Ren H;Yan K;Hu S;Björkholm M;Fan Y;Xu D
TERT启动子突变在许多恶性肿瘤中被发现，包括膀胱癌(BC)和上尿路上皮癌(UTUC)。相比之下，在肾细胞癌(RCC)中没有发现突变，正如最近的一项研究所报道的那样。由于尿DNA中突变的TERT启动子最近被检测为BC的标志，因此确定这些突变是否真的在RCC中缺失是很重要的。在这里，我们检测了109例肾癌患者和14例UTUC患者的TERT启动子突变。突变发生在9/96(9.3%)肾透明细胞癌(CcRCC)和1/8(13%)嫌色肾细胞癌。在ccRCC患者中，该突变与晚期和转移以及TERT的高表达有关。在UTUCs中，3/5(60%)的肾盆癌患者和1/9(11%)的输尿管癌患者的肿瘤中检测到该突变。突变+UTUC患者的4份尿样中也有1份检测到该突变。总体而言，TERT启动子突变确实发生在RCC中，并与侵袭性疾病有关。这种突变在肾盆癌中更为常见。因此，尿液中发现的突变TERT启动子可能不仅来自BC，还可能来自RCC或UTUC。
TERT promoter mutations are identified in many malignancies including bladder cancer (BC) and upper tract urothelial carcinoma (UTUC). In contrast, no mutations were found in renal cell carcinoma (RCC) as reported in a recent study. Because the mutant TERT promoter in urine DNA was recently tested as a marker for BC, it is important to ascertain whether these mutations are truly absent in RCCs. Here we determined TERT promoter mutations in 109 patients with RCC and 14 patients with UTUC. The mutations were found in 9/96 (9.3%) clear cell RCC (ccRCC) tumors and 1/8 (13%) chromophobe RCC tumors. Among ccRCC patients, the mutation was correlated with the advanced stages and metastasis, and higher TERT expression. Among UTUCs, the mutation was detected in tumors from 3/5 (60%) patients with renal pelvic cancer and 1/9 (11%) patients with ureter cancer. The mutation was also detected in 1 of 4 urine samples from patients with mutation+ UTUC. Collectively, TERT promoter mutations do occur in RCCs and are associated with aggressive disease. The mutation is more frequent in renal pelvic cancer. Thus, the mutant TERT promoter found in urine may come from not only BC, but also RCC or UTUC.
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影响因子：
6.6
作者：
Choueiri, Toni K.;Vaziri, Susan A. J.;Ganapathi, Ram
通讯作者：
Ganapathi, Ram
影响因子：
45.3
作者：
Dômomt, J;Pawlik, TM;Vauthey, JN
通讯作者：
Vauthey, JN
影响因子：
23.4
作者：
Allory, Yves;Beukers, Willemien;Real, Francisco X.
通讯作者：
Real, Francisco X.
DOI：
10.1126/science.1229259
发表时间：
2013-02-22
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Huang FW;Hodis E;Xu MJ;Kryukov GV;Chin L;Garraway LA
通讯作者：
Garraway LA
影响因子：
3.5
作者：
Daniel M;Peek GW;Tollefsbol TO
通讯作者：
Tollefsbol TO