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目的观察转录因子E3(transcription factor E3,TFE3)及组织蛋白酶K(cathepsin-k,Cath-K)在Xp11.2易位/TFE3基因融合相关性肾癌(Xp11.2易位性肾癌)中的表达。方法对2006年1月—2013年3月在南京大学医学院附属鼓楼医院诊断的年龄小于45岁或组织病理形态怀疑Xp11.2易位性肾癌的65例肾细胞癌蜡块标本行TFE3、Cath-K免疫组化试验及荧光原位杂交(fluorescence in situ hybridization,FISH)检测。以FISH阳性作为诊断Xp11.2易位性肾癌的标准,分析TFE3和Cath-K在诊断Xp11.2易位性肾癌中的敏感性、特异性、阳性预测值和阴性预测值。结果 TFE3和Cath-K诊断Xp11.2易位性肾癌的敏感性分别为95.5%和72.7%,特异性分别为93.0%和100.0%,阳性预测值分别为87.5%和100.0%,阴性预测值分别为97.6%和87.8%。TFE3联合Cath-K诊断Xp11.2易位性肾癌的敏感性为94.1%,特异性为100.0%,阳性预测值为100.0%,阴性预测值为98.0%。结论年龄、血尿及组织病理形态仍是提示诊断Xp11.2易位性肾癌的指标之一。TFE3诊断Xp11.2易位性肾癌具有较高的敏感性和阴性预测值,Cath-K具有较高的特异性和阳性预测值。联合TFE3及Cath-K能提高Xp11.2易位性肾癌诊断的准确性。
Objective To observe the expression of transcription factor E3 (TFE3) and cathepsin-k (Cath-K) in Xp11.2 translocation / TFE3 gene fusion-associated renal cell carcinoma expression. Methods From January 2006 to March 2013, 65 cases of renal cell carcinoma with Xp11.2 translocation were diagnosed in the Gulou Hospital Affiliated to Nanjing University Medical School. The TFE3, Cath-K immunohistochemistry and fluorescence in situ hybridization (FISH) were performed. The sensitivity, specificity, positive predictive value and negative predictive value of TFE3 and Cath-K in the diagnosis of Xp11.2 translocated renal cell carcinoma were analyzed by using FISH positive as the standard for diagnosing Xp11.2 translocated renal cell carcinoma. Results The sensitivity of TFE3 and Cath-K for diagnosing Xp11.2 translocated renal cell carcinoma was 95.5% and 72.7%, respectively, the specificity was 93.0% and 100.0%, respectively, and the positive predictive value was 87.5% and 100.0% respectively. The negative predictive value Respectively 97.6% and 87.8%. TFE3 combined with Cath-K had a sensitivity of 94.1%, a specificity of 100.0%, a positive predictive value of 100.0% and a negative predictive value of 98.0% for Xp11.2 translocated renal cell carcinoma. Conclusion Age, hematuria and histopathology are still one of the indicators that suggest the diagnosis of Xp11.2 translocation. TFE3 diagnosis of Xp11.2 translocation of renal cancer has a high sensitivity and negative predictive value, Cath-K has a high specificity and positive predictive value. The combination of TFE3 and Cath-K can improve the diagnostic accuracy of Xp11.2 translocation of renal cell carcinoma.