临床与实验病理学杂志2011，Vol.27Issue(8)：863-868,6.
尿脱落细胞荧光原位杂交检测对尿路上皮癌的诊断价值及漏诊原因分析
Clinical utility of fluorescence in situ hybridization assay for urothelial carcinoma and analysis of reasons of missed diagnosis
叶庆 1王志华 2杨军 1曲锋 3孟凡青1
作者信息
- 1. 南京大学医学院附属鼓楼医院病理科,南京,210008
- 2. 南京大学医学院附属鼓楼医院泌尿科,南京,210008
- 3. 华中科技大学同济医学院附属同济医院泌尿外科,武汉,430016
- 折叠
摘要
Abstract
Purpose Urothelial carcinoma is a common malignant neoplasm of the genitourinary system. The purpose of this study was to evaluate the specificity and sensitivity of fluorescence in situ hybridization ( FISH ) assay as a non-invasive method for diagnosis and surveillance of urothelial carcinoma ( UC ) and to analysis primary reasons of missed diagnosis. Methods UC-related aneuploidy of chromosome 9p21 and 3 , 7 , 17 were analyzed using uroepithelial cells at the first void urine for patients with suspected urinary tract tumor or suspected recurrent UC. Uroepithelial cells in urine were tested by FISH and tumor tissue cystoscopy biopsy or operation was employed by histology simultaneously. The sensitivity and specificity were calculated based on the histology correlation. For those missed-diagnosis cases, FISH was used to analyze chromosomes 9p21 and 3 , 7 and 17 in related tumor tissue, and urine cytology. The primary reasons of misdiagnosis were analyzed. Results Among 100 patients with pathological diagnosis, 35 patients were urothelial carcinoma ( UC ), and 65 patients were non-carcinoma. The sensitivity and specificity of FISH were 80％ ( 28/35 ) and 100％ ( 65/65 ), respectively. FISH identified 25 positive cases in 28 high-grade urothelial carcinoma cases ( sensitivity 89. 29％ ); while the 3 missed diagnosis cases showed UC-related genetic abnormalities in tumor tissue hut in exfoliocytology with few urothelial cells. Among 7 low-grade urothelial carcinoma cases, FISH identified 3 positive cases ( sensitivity 42. 86％ ) ; while the 2 of 4 missed diagnosis cases showed a small amount of aneuploidy tumor cells in tumor tissue by FISH but in exfoliocytology with few urothelial cells; Another 2 of 4 missed diagnosis cases showed no UC-related genetic abnormalities in tumor tissue and in exfoliocytology. Conclusion It is an effective method for diagnosis and surveillance in UC to detect UC-related aneuploidy of chromosomes 9p21 and 3 , 7 , and 17 by FISH in the urine exfoliated cells. This detection is more sensitive for the high-grade urothelial carcinoma cases. The main cause of misdiagnosis may be few urothelial cells in urine of high-grade urothelial carcinoma or lack of UC-related aneuploidy for low-grade urothelial car cinoma.关键词
尿脱落细胞/尿路上皮癌/荧光原位杂交/敏感度/特异度/漏诊Key words
uroepithelial cells/ urothelial carcinoma/ fluorescence in situ hybridization/ sensitivity/ specificity/ missed diagnosis分类
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叶庆,王志华,杨军,曲锋,孟凡青..尿脱落细胞荧光原位杂交检测对尿路上皮癌的诊断价值及漏诊原因分析[J].临床与实验病理学杂志,2011,27(8):863-868,6.
