Multitarget fluorescence in situ hybridization assay detects transitional cell carcinoma in the majority of patients with bladder cancer and atypical or negative urine cytology
Multitarget fluorescence in situ hybridization assay detects transitional cell carcinoma in the majority of patients with bladder cancer and atypical or negative urine cytology
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DOI：
10.1097/01.ju.0000066842.45464.cc
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发表时间：
2003-06-01
影响因子：
6.6
通讯作者：
Tubbs, RR
中科院分区：
文献类型：
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作者：
Skacel, M;Fahmy, M;Tubbs, RR
目的：多靶荧光原位杂交（FISH）探针组UroVysion（Vysis，Downers格罗夫，伊利诺伊州），含有3，7和17号染色体的探针，和9p21带，最近已被证明具有高灵敏度和特异性检测移行细胞癌。在这项研究中，我们回顾性检测了120例非典型、可疑和阴性细胞学检查患者的尿液样本，这些患者的同期和随访膀胱活检数据可用。我们评估的能力，FISH识别恶性细胞在细胞学可疑或阴性cases.Materials和方法：存档的载玻片从120个排尿（47）或仪器（73）尿细胞学标本，同时膀胱活检和至少12个月的活检随访患者进行杂交与UroVysion。该队列包括活检证实的移行细胞癌患者，分别为23、35和24例I至3级，3例pTis期，64例pTa期，6例pT1期，6例pT2期和3例pT4期，而38例组织学阴性。细胞学诊断为可疑癌31例，不典型癌49例，阴性癌40例。FISH阳性结果定义为5个或更多的移行细胞具有3、7或17号染色体中的2个或更多的增益，12个或更多的细胞具有9p21缺失，或10%或更多的细胞具有3、7和17号染色体中的1个的孤立的三体性。在82例经活检证实的移行细胞癌中，除12例（11例pTa和1例pT1肿瘤）外，其余均为FISH阳性（敏感性85%）。对可疑、不典型和阴性细胞学的敏感性分别为100%、89%和60%。9例非典型细胞学检查阳性的患者在同时进行的膀胱活检阴性的情况下FISH阳性。然而，这9例患者中有8例（89%）在获得FISH检测样本后12个月内活检证实为移行细胞癌。这些假阳性结果的最后一名患者先前记录了pTis疾病，其也存在于阳性FISH结果后15个月的下一次膀胱活检中。其余29例活检阴性和12个月随访阴性患者的标本经FISH检测呈阴性（总体特异性为97%）。结论：UroVysion FISH检测试剂盒可提供高灵敏度和特异性，用于检测细胞学可疑和阴性尿液样本中的移行细胞癌。这些结果强调了该测定在膀胱癌管理中的重要作用。
Purpose: The multitarget fluorescence in situ hybridization (FISH) probe set UroVysion (Vysis, Downers Grove, Illinois), containing probes to chromosomes 3, 7 and 17, and to the 9p21 band, has been recently shown to have high sensitivity and specificity for detecting transitional cell carcinoma. In this study we retrospectively tested 120 urine samples from patients with atypical, suspicious and negative cytology for whom concurrent and followup bladder biopsy data were available. We evaluated the ability of FISH to identify malignant cells in cytologically equivocal or negative cases.Materials and Methods: Archived slides from 120 voided (47) or instrumented (73) urine cytology specimens from patients with concurrent bladder biopsy and a minimum of 12 months of biopsy followup were subjected to hybridization with UroVysion. The cohort included patients with biopsy proven transitional cell carcinoma, which was grades I to 3 in 23, 35 and 24, respectively, and stages pTis in 3, pTa in 64, pT1 in 6, pT2 in 6 and pT4 in 3, while it showed negative histology in 38. Cytology findings were suspicious, atypical and negative for transitional cell carcinoma in 31, 49 and 40 cases, respectively. A positive FISH result was defined as 5 transitional cells or greater with a gain of 2 or more of chromosomes 3, 7 or 17, 12 cells or greater with 9p21 deletion, or 10% or greater of cells with isolated trisomy of 1 of chromosomes 3, 7 and 17.Results: All except 12 of the 82 biopsy proven transitional cell carcinoma cases (11 pTa and 1 pT1 tumors) were positive by FISH (85% sensitivity). Sensitivity in patients with suspicious, atypical and negative cytology was 100%, 89% and 60%, respectively. Nine patients with atypical cytology had positive FISH in the setting of a negative concurrent bladder biopsy. However, 8 of these 9 patients (89%) had biopsy proven transitional cell carcinoma within 12 months following the date when the sample tested by FISH was obtained. The last of these patients with false-positive results had previously documented pTis disease, which was also present in the next bladder biopsy 15 months following the positive FISH result. The remaining 29 specimens from patients with negative biopsy and a negative 12-month followup tested negative by FISH (97% overall specificity).Conclusions: The UroVysion FISH assay provides high sensitivity and specificity to detect transitional cell carcinoma in cytologically equivocal and negative urine samples. These results emphasize the important role of this assay in the management of bladder cancer.