上尿路肉瘤样尿路上皮癌中TERT启动子突变状态
TERT promoter mutation status in sarcomatoid urothelial carcinomas of the upper urinary tract.
作者信息
Wang Xiaoyan, Lopez-Beltran Antonio, Osunkoya Adeboye O, Wang Mingsheng, Zhang Shaobo, Davidson Darrell D, Emerson Robert E, Williamson Sean R, Tan Puay-Hoon, Kaimakliotis Hristos Z, Baldridge Lee Ann, MacLennan Gregory T, Montironi Rodolfo, Cheng Liang
机构信息
Department of Pathology, Indiana University School of Medicine, Indianapolis, IN, USA.
Department of Pathology & Surgery, Faculty of Medicine, Cordoba, Spain.
出版信息
Future Oncol. 2017 Apr;13(8):705-714. doi: 10.2217/fon-2016-0414. Epub 2017 Jan 5.
AIM
To determine TERT promoter mutation status as well as the expression of PAX8, GATA3, p63, p40, p53 and uroplakin III in 17 patients with the upper urinary tract sarcomatoid urothelial carcinoma.
METHODS & RESULTS: TERT C228T mutations were found in six of 17 cases (35%). p53 was expressed in 77% of these tumors. PAX8, GATA3, p40 and uroplakin III are less frequently expressed. Lymph node metastases were present in ten cases (59%). Eight patients (47%), including all three patients with TERT mutation, died of cancer within 2 years after surgery.
CONCLUSION
Sarcomatoid carcinoma of the upper urinary tract is an aggressive tumor and the presence of TERT mutation may portend poor prognosis.
目的
确定17例上尿路肉瘤样尿路上皮癌患者的端粒酶逆转录酶（TERT）启动子突变状态以及配对盒基因8（PAX8）、GATA结合蛋白3（GATA3）、p63、p40、p53和uroplakin III的表达情况。
方法与结果
17例患者中有6例（35%）检测到TERT C228T突变。77%的肿瘤表达p53。PAX8、GATA3、p40和uroplakin III的表达频率较低。10例（59%）出现淋巴结转移。8例患者（47%），包括所有3例TERT突变患者，在手术后2年内死于癌症。
结论
上尿路肉瘤样癌是一种侵袭性肿瘤，TERT突变的存在可能预示预后不良。
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