Detection of TERT promoter mutations in primary adenocarcinoma of the urinary bladder.
Detection of TERT promoter mutations in primary adenocarcinoma of the urinary bladder.
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DOI：
10.1016/j.humpath.2016.02.009
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发表时间：
2016-07
期刊：
影响因子：
3.3
通讯作者：
Netto GJ
中科院分区：
文献类型：
--
作者：
Cowan ML;Springer S;Nguyen D;Taheri D;Guner G;Mendoza Rodriguez MA;Wang Y;Kinde I;Del Carmen Rodriguez Pena M;VandenBussche CJ;Olson MT;Cunha I;Fujita K;Ertoy D;Kinzler K;Bivalacqua T;Papadopoulos N;Vogelstein B;Netto GJ
已在60%至80%的尿路上皮癌中检测到TERT启动子突变(TERT-mut)。我们小组和其他人目前正在进行一种基于分子尿液的检测TERT-mut的筛查试验。一小部分但数量可观的膀胱癌是腺癌。目前的研究评估了TERT-mut在膀胱腺癌中的发生率。回顾我们的机构病理记录，发现23例膀胱癌切除标本被诊断为腺癌(2000-2014)。所有切片均由资深泌尿科病理学家检查，以确定肿瘤类型，并选择具有代表性的福尔马林固定石蜡包埋切片进行突变分析。14例患者有足够的DNA检测材料(7例肠型，7例未作特殊说明)。使用前面描述的SafeSeq技术进行TERT-MUT测序分析。总体而言，28.5%的原发腺癌携带TERT-mut。有趣的是，57%的非肠道腺癌是突变阳性的，而肠道型肿瘤中没有突变。与尿路上皮癌相似，我们发现在非肠道型腺癌中TERT-mut的发生率相对较高，进一步支持了基于尿液的TERT-mut在膀胱癌筛查中的潜在应用。
TERT promoter mutations (TERT-mut) have been detected in 60% to 80% of urothelial carcinomas. A molecular urine-based screening assay for the detection of TERT-mut is currently being pursued by our group and others. A small but significant number of bladder carcinomas are adenocarcinoma. The current study assesses the incidence of TERT-mut in primary adenocarcinomas of urinary bladder. A retrospective search of our institutional pathology records identified 23 cystectomy specimens with a diagnosis of adenocarcinoma (2000–2014). All slides were reviewed by a senior urologic pathologist to confirm tumor type and select a representative formalin-fixed, paraffin-embedded block for mutational analysis. Adequate material for DNA testing was available in 14 cases (7 enteric type and 7 not otherwise specified). TERT-mut sequencing analysis was performed using previously described SafeSeq technique. Overall, 28.5% of primary adenocarcinoma harbored TERT-mut. Interestingly, 57% of nonenteric adenocarcinomas were mutation positive, whereas none of the enteric-type tumors harbored mutations. Similar to urothelial carcinoma, we found a relatively higher rate of TERT-mut among nonenteric-type adenocarcinomas further supporting the potential utility of TERT-mut urine-based screening assay for bladder cancer.
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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：
2.1
作者：
Avritscher, Elenir B. C.;Cooksley, Catherine D.;Elting, Linda S.
通讯作者：
Elting, Linda S.
DOI：
10.1097/pas.0b013e31819aa4ae
发表时间：
2009-05
期刊：
The American journal of surgical pathology
影响因子：
--
作者：
Gopalan A;Sharp DS;Fine SW;Tickoo SK;Herr HW;Reuter VE;Olgac S
通讯作者：
Olgac S
端粒酶逆转录酶基因启动子突变有助于辨别泌尿生殖肿瘤的起源：基因组和分子研究。
影响因子：
23.4
作者：
Wu, Song;Huang, Peide;Cai, Zhiming
通讯作者：
Cai, Zhiming