Telomerase reverse transcriptase (TERT) promoter mutations are rare in urachal cancer
Telomerase reverse transcriptase (TERT) promoter mutations are rare in urachal cancer
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DOI：
10.1111/pin.12594
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发表时间：
2017-10
影响因子：
2.2
通讯作者：
Sebastian Thiem;T. Herold;U. Krafft;F. Bremmer;Y. Tolkach;A. M. Szász;J. Kriegsmann;N. Gaisa;C. Niedworok;T. Szarvas;H. Reis
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文献类型：
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作者：
Sebastian Thiem;T. Herold;U. Krafft;F. Bremmer;Y. Tolkach;A. M. Szász;J. Kriegsmann;N. Gaisa;C. Niedworok;T. Szarvas;H. Reis
最近发现尿路上皮癌(UC)中端粒酶逆转录酶(TERT)启动子突变率很高。与膀胱癌不同的是，脐尿管癌(URC)病例中以腺癌为主。由于URC中的数据尚不清楚，我们分析了大量URC中的TERT启动子突变，以了解其鉴别诊断、临床病理和预后意义。采用聚合酶链式反应和Sanger测序方法对6个研究中心的尿路癌病例进行c.-146C>；T(C250T)和c.-124C>；T(C228T)TERT启动子突变分析。收集临床病理和生存资料。队列包括15名男性(56%)和12名女性(44%)，中位年龄50岁，包括23例腺癌，2例鳞癌，1例UC和1例未分化癌。在1例(粘液性)脐尿管腺癌中检测到C228T突变(1/23；4%)，与鳞状细胞癌相似，UC中除1例C250T突变外，还有1例C228T突变。TERT启动子突变在脐尿管腺癌中非常罕见(与UC不同)，具有鉴别诊断意义。此外，脐尿管腺癌的低TERT启动子突变率更接近于结直肠癌而不是UC，这进一步支持了最近的遗传学发现和治疗考虑。
High rates of telomerase reverse transcriptase (TERT) promoter mutations have recently been described in urothelial carcinoma (UC). Unlike UC in the bladder, adenocarcinomas account for the majority of urachal cancer (UrC) cases. As data in UrC is unclear, we analyzed TERT promoter mutations in a large cohort of UrC for its differential diagnostic, clinicopathological and prognostic significance. UrC cases from six academic centers were analyzed for c.‐146C>T (C250T) and c.‐124C>T (C228T) TERT promoter mutations by PCR and Sanger sequencing. Clinicopathological and survival data were collected. The cohort consisted of 15 men (56%) and 12 women (44%) with a median age of 50 years including 23 adenocarcinomas, two squamous cell carcinomas (SCC), one UC and one undifferentiated carcinoma. In one case of (mucinous) urachal adenocarcinoma a C228T mutation was detected (1/23; 4%), like in a case of SCC in addition to one C250T mutation in the UC case. TERT promoter mutations are very rare in urachal adenocarcinomas (unlike in UC) with differential diagnostic implications. Additionally, the low TERT promoter mutation rate in urachal adenocarcinomas is more comparable to colorectal adenocarcinomas than to UC, giving further support to recent genetic findings and therapeutic considerations.