Application of fluorescence in situ hybridization in the diagnosis of squamous cell carcinoma of urinary system
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摘要: 目的 利用荧光原位杂交技术(FISH)分析泌尿系鳞癌中染色体畸变情况，探讨泌尿系鳞癌与尿路上皮癌中染色体的畸变特征。方法 回顾性分析2016年1月—2021年8月华中科技大学同济医学院附属同济医院收治的8例泌尿系鳞癌伴血尿并行FISH检测的患者，同时选取523例FISH检测的血尿患者标本作为对照，其中尿路上皮癌340例，非尿路上皮癌183例。结果 8例泌尿系鳞癌伴血尿患者中，4例肾脏鳞癌，其中2例为原发性肾脏鳞癌，1例为食管癌来源的肾脏鳞癌，1例为肺癌来源的肾脏鳞癌；2例原发性膀胱鳞癌；2例输尿管鳞癌，均来源于宫颈鳞癌侵犯。尿FISH诊断泌尿系鳞癌的灵敏度为62.5%(5/8)；阳性患者中3号、7号染色体基因扩增率均为100%(5/5)，17号染色体基因扩增率为80%(4/5)，GLPp16位点的基因缺失率为40%(2/5)；与尿路上皮癌比较，FISH诊断泌尿系鳞癌的效能差异无统计学意义(62.5% vs 75.9%，χ2=0.758，P=0.306)；3号、7号、17号染色体及GLPp16的基因扩增或缺失的比例在尿路上皮癌与泌尿系鳞癌中的差异无统计学意义(χ2=0.442、0.352、0.003、0.566，P＞0.05)；4例转移性泌尿系鳞癌的FISH灵敏度为50%(2/4)。结论 原发性或转移性泌尿系鳞癌患者尿FISH均可呈阳性；泌尿系鳞癌和尿路上皮癌尿FISH灵敏度无显著差异。Abstract: Objective To analyze the chromosome aberration in urinary squamous cell carcinoma and explore the characteristics of chromosome aberration in urinary squamous cell carcinoma and urothelial carcinoma by Fluorescence in situ hybridization (FISH).Methods From January 2016 to August 2021, 8 patients with urothelial squamous cell carcinoma and hematuria detected by FISH in Tongji Hospital were analyzed retrospectively. At the same time, 523 patients with hematuria detected by FISH were selected as the control, including 340 cases of urothelial carcinoma and 183 cases of non-urothelial tumors. The expression of chromosomes 3, 7 and 17 and GLPp16 in 8 cases of urinary squamous cell carcinoma were detected by FISH.Results Among the 8 cases of urinary squamous cell carcinoma and hematuria, 4 cases were renal squamous cell carcinoma, including 2 cases of primary renal squamous cell carcinoma, 1 case of renal squamous cell carcinoma arise from esophagus and 1 case of renal squamous cell carcinoma arise from lung. Other 4 cases included 2 cases of primary bladder squamous cell carcinoma and 2 cases of ureteral squamous cell carcinoma, all arise from cervical squamous cell carcinoma. The sensitivity of urinary FISH in the diagnosis of urinary squamous cell carcinoma were 62.5% (5/8). The gene amplification rate of chromosome 3 and 7 was 100% (5/5), the gene amplification rate of chromosome 17 was 80% (4/5), and the gene deletion rate of GLPp16 locus was 40% (2/5). Compared with urothelial carcinoma, there was no significant difference in the efficacy of FISH in the diagnosis of urinary squamous cell carcinoma (62.5% vs 75.88%, χ2=0.758, P=0.306). There was no significant difference in the proportion of amplification or deletion of chromosome 3, 7, 17 or GLPp16 gene between urothelial carcinoma and urinary squamous cell carcinoma (χ2=0.442, 0.352, 0.003, 0.566, P > 0.05). The sensitivity of FISH in the diagnosis of squamous cell carcinoma was 50% (2/4).Conclusion There is no significant difference between the efficacy of FISH in the diagnosis of urinary squamous cell carcinoma and urothelial carcinoma. FISH detection can be used for the noninvasive diagnosis of urinary squamous cell carcinoma. Not all urinary FISH positive tumors are urothelial carcinoma.
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表 1 8例泌尿系鳞癌患者的一般情况
编号 性别 年龄/岁 FISH(+/-) 病理诊断 治疗 1 男 39 - 肾鳞状细胞癌 肾部分切除术 2 女 52 + 肾鳞状细胞癌 肾根治术 3 男 63 + 肾鳞状细胞癌(肺来源) 肾根治术 4 男 56 + 肾鳞状细胞癌(食管来源) 肾根治术 5 女 63 - 输尿管鳞状细胞癌(宫颈来源) 肾、输尿管切除术 6 女 61 - 输尿管鳞状细胞癌(宫颈来源) 肾、输尿管切除术 7 男 61 + 膀胱鳞状细胞癌 膀胱根治术 8 男 50 + 膀胱鳞状细胞癌 膀胱根治术 注：FISH(+)表示阳性；FISH(-)表示阴性。 
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表 2 尿FISH在泌尿系鳞癌、尿路上皮癌与非尿路肿瘤患者中的检测情况比较
例 组别 FISH P值 + - 泌尿系鳞癌(8例) 5 3 0.3061) 尿路上皮癌(340例) 258 82 ＜0.052) 非尿路上皮癌(183例) 18 165 ＜0.053) 注：1)泌尿系鳞癌与尿路上皮癌比较；2)尿路上皮癌与非尿路上皮癌比较；3)泌尿系鳞癌与非尿路上皮癌比较。
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表 3 泌尿系鳞癌尿FISH阳性的染色体畸变情况
编号 性别 年龄/岁 染色体是否扩增/缺失 CSP3 CSP7 GlPp16 CSP17 1 女 52 1 1 1 0 2 男 61 1 1 1 1 3 男 50 1 1 0 1 4 男 63 1 1 0 1 5 男 56 1 1 0 1 注：1=染色体扩增/缺失；0=无染色体扩增/缺失。
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