荧光原位杂交技术在膀胱癌早期诊断中的作用

Application of fluorescence in situ hybridization in early diagnosis of bladder cancer

目的通过荧光原位杂交(FISH)技术检测尿液内脱落细胞染色体异常情况,以提高膀胱癌早期诊断率,减少患者膀胱镜检查次数。方法应用FISH技术分析110例血尿患者尿脱落细胞染色体异常情况,其中包括膀胱癌86例、泌尿系感染12例、滤泡增生(腺性膀胱炎)4例、良性肿瘤(乳头状瘤)4例、不明原因血尿4例。上述患者均经膀胱镜组织活检确诊。比较FISH检测与病理切片检查在确诊膀胱肿瘤上的区别。结果 86例膀胱癌患者中有68例FISH检测结果为阳性,剩余18例FISH检测为阴性的膀胱癌患者中有10例为小于5mm的Ta期浅表膀胱癌。与病理学检查结果比较,FISH检测的特异性为100%,敏感性为87%。FISH检测结果发现T1及T2期膀胱癌细胞染色体异常数目明显高于Ta期膀胱肿瘤(P<0.05),但在T1及T2期膀胱肿瘤间差异无统计学意义(P>0.05)。结论 FISH检测具有敏感性高、特异性强、无创伤等优点,在初步诊断及监测膀胱癌复发方面具有较好的临床应用前景,有可能成为简便、有效的膀胱癌初筛指标之一。

Objective To evaluate the role of multiprobe fluorescence in situ hybridization（FISH） test for dropped off cells in urine for improving early diagnosis of bladder cancer,in order to avoid repeated cystoscopy.Methods One hundred and ten urine specimens from hematuria patients were subjected to FISH analysis,including 86 cases of bladder cancer,12 cases of urinary tract infection,4 cases of follicular hyperplasia（cystitis）,4 cases of benign tumors（papillomas）,and 4 cases of unexplained hematuria.The diseases were finally diagnosed by cystoscopy biopsy.The difference between the results of FISH test and biopsy pathology in the diagnosis of bladder cancer was compared.Results Sixty-eight of 86 patients with bladder cancer yielded positive results on FISH test.Among the remaining 18 patients who gave negative results on FISH test,the tumor size was less than 5mm in 10 patients whose lesion was Ta phase superficial bladder cancer.Compared with the pathological findings,the specificity of FISH test was 100%,and sensitivity was 87%.FISH test revealed that the number of cells with chromosomal abnormality was significantly higher in T1and T2stage bladder cancer than in stage Ta bladder cancer（P0.05）,while no significant difference was found between the T1and T2stage bladder cancer（P0.05）.Conclusions FISH test possesses the advantages of noninvasiveness,high sensitivity and specificity,and it is prospective for clinical application for the primary diagnosis and for monitoring signs of recurrence of bladder cancer.It could be considered to be a simple and reliable indicator in bladder cancer screening.