摘要
目的研究荧光原位杂交(FISH)检测尿脱落细胞9p21和3、7、17号染色体数目变化,协助尿路上皮癌诊断和术后监测的特异度和敏感度,并分析和研究造成漏诊的原因。方法检测尿脱落细胞染色体数目变化,并做病理活检;以病理检查结果为金标准评价该检测的特异度和敏感度。漏诊病例的癌组织行FISH检测,并复查尿脱落细胞滴片,分析漏诊原因。结果 100例样本中,35例尿路上皮癌中28例FISH阳性,敏感度为80%;65例非肿瘤中65例FISH阴性,特异度为100%。28例高级别尿路上皮癌3例漏诊,敏感度为89.29%,其癌组织均存在与尿路上皮癌相关的非整倍体,其滴片中尿脱落细胞均少但均未见存在与尿路上皮癌相关的非整倍体。7例低级别尿路上皮癌4例漏诊,敏感度为42.86%,其中2例癌组织仅少量癌细胞存在与尿路上皮癌相关的非整倍体,2例未见上述异常;其滴片中尿脱落细胞2例细胞数少但均未见与尿路上皮癌相关的非整倍体。结论用FISH检测尿脱落细胞上是否存在9p21和3、7、17号染色体与尿路上皮癌相关的非整倍体,具有较高的敏感性和特异性,可用于辅助尿路上皮癌诊断和术后监测。该检测对于高级别尿路上皮癌更敏感。自然尿中尿脱落细胞较少是导致该检测漏诊的主要原因;对于低级别尿路上皮癌,缺乏与尿路上皮癌相关的遗传学异常是导致该检测漏诊的主要原因。
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 but 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 uroth
出处
《临床与实验病理学杂志》
CAS
CSCD
北大核心
2011年第8期863-868,共6页
Chinese Journal of Clinical and Experimental Pathology
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
uroepithelial cells
urothelial carcinoma
fluorescence in situ hybridization
sensitivity
specificity
missed diagnosis
