Xiong Lei, Chen Xiancheng, Liu Ning, Wang Zhen, Miao Baolei, Gan Weidong, Li Dongmei, Guo Hongqian
Department of Urology, Nanjing Drum Tower Hospital, Medical School of Nanjing University, Institute of Urology, Nanjing University, Nanjing, China.
Department of Critical Care Medicine, Nanjing Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China.
PLoS One. 2017 Sep 26;12(9):e0185337. doi: 10.1371/journal.pone.0185337. eCollection 2017.
PRCC-TFE3 renal cell carcinoma (RCC) is one of the most common types of Xp11.2 translocation renal cell carcinoma (tRCC), of which the diagnosis mainly relies on reverse transcription-polymerase chain reaction (RT-PCR) or chromosomal analysis in fresh frozen samples. Herein, we developed a new dual-fusion fluorescence in situ hybridization (FISH) probe to succinctly identify PRCC-TFE3 RCC in paraffin-embedded tissue. We immunohistochemically analyzed TFE3 and cathepsin K expression in 23 cases of Xp11.2 tRCC which had been confirmed by break-apart TFE3 FISH probe. Next, the dual-fusion FISH assay was performed on these selected cases. Twenty typical cases of clear renal cell carcinoma and 20 cases of papillary renal cell carcinoma were collected as control groups. Seven cases were finally confirmed as PRCC-TFE3 RCC by FISH detection, emerging dual-fusion signals, of which 2 cases were identified as PRCC-TFE3 RCC by RT-PCR previously. All remaining cases were negative for the PRCC-TFE3 rearrangement by FISH. The TFE3 immunohistochemistry was positive in 22/23 cases and the cathepsin K was positive in 16/23 cases. All 7 PRCC-TFE3 RCCs showed positive cathepsin K immunoreactivity. Our results reveal that PRCC-TFE3 dual-fusion FISH probe is an efficient and concise technique for diagnosing PRCC-TFE3 RCC in paraffin-embedded tissue.
PRCC-TFE3肾细胞癌（RCC）是Xp11.2易位性肾细胞癌（tRCC）最常见的类型之一，其诊断主要依赖于新鲜冰冻样本中的逆转录-聚合酶链反应（RT-PCR）或染色体分析。在此，我们开发了一种新的双融合荧光原位杂交（FISH）探针，以简洁地鉴定石蜡包埋组织中的PRCC-TFE3 RCC。我们对23例经TFE3断裂分离FISH探针证实的Xp11.2 tRCC病例进行了TFE3和组织蛋白酶K表达的免疫组化分析。接下来，对这些选定病例进行双融合FISH检测。收集20例典型的透明肾细胞癌病例和20例乳头状肾细胞癌病例作为对照组。最终通过FISH检测，7例出现双融合信号，被确诊为PRCC-TFE3 RCC，其中2例之前通过RT-PCR被鉴定为PRCC-TFE3 RCC。其余所有病例FISH检测PRCC-TFE3重排均为阴性。23例病例中，TFE3免疫组化22例阳性，组织蛋白酶K免疫组化16例阳性。所有7例PRCC-TFE3 RCC组织蛋白酶K免疫反应均呈阳性。我们的结果表明，PRCC-TFE3双融合FISH探针是诊断石蜡包埋组织中PRCC-TFE3 RCC的一种高效且简洁的技术。
