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目的评价FISH用于诊断上泌尿系尿路上皮癌(UUTUC)的临床应用价值。方法应用荧光原位杂交(FISH)检查和尿细胞学检查58例UUTUC患者和20例健康人群尿沉渣标本,并比较两者的效果。FISH探针采用随机引物法标记3、7、17号染色体着丝粒及9p21(p16)区带。分析FISH结果中各个探针的出现频率。结果 FISH对于UUT检查敏感性高于尿细胞学检查(75.9%vs.34.5%,P=0.0001),特异性相似(90%vs.95%,P=0.548)。FISH和尿细胞学检查阳性预测值95.6%和95.2%,阴性预测值分别是56.3%和33.3%。探针中3、7和17号染色体非整倍性扩增率分别为52.3%、56.9%和34.1%,p16杂合性缺失丢失27.3%。结论应用3、7、9和p16探针的FISH检查用于UUTUC中敏感性更高而特异性相似,可用于UUTUC的术前诊断。
Objective To evaluate the clinical value of FISH in the diagnosis of upper urinary tract urothelial carcinoma (UUTUC). Methods Urinary sediment samples were collected from 58 UUTUC patients and 20 healthy controls by fluorescence in situ hybridization (FISH) and urinary cytology, and their effects were compared. FISH probes were used to mark the centromere of chromosomes 3, 7 and 17 and the 9p21 (p16) band by random primers. The frequency of appearance of each probe in the FISH results was analyzed. Results FISH was more sensitive to UUT than urine cytology (75.9% vs.34.5%, P = 0.0001), with similar specificity (90% vs.95%, P = 0.548). The positive predictive values of FISH and urinary cytology were 95.6% and 95.2%, respectively. The negative predictive values were 56.3% and 33.3% respectively. The amplification rates of chromosome 3, 7 and 17 aneuploidy in the probe were 52.3%, 56.9% and 34.1% respectively, and the loss of p16 heterozygosity was lost by 27.3%. Conclusion The FISH test using 3, 7, 9 and p16 probes is more sensitive and specific in UUTUC and can be used for the preoperative diagnosis of UUTUC.