PRCC-TFE3 dual-fusion FISH assay: A new method for identifying PRCC-TFE3 renal cell carcinoma in paraffin-embedded tissue.

PRCC-TFE3 dual-fusion FISH assay: A new method for identifying PRCC-TFE3 renal cell carcinoma in paraffin-embedded tissue.
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PRCC-TFE3 双融合 FISH 检测:石蜡包埋组织中鉴定 PRCC-TFE3 肾细胞癌的新方法

DOI:
10.1371/journal.pone.0185337
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发表时间:
2017
期刊:
影响因子:
3.7
通讯作者:
Guo H
Guo H
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Xiong L;Chen X;Liu N;Wang Z;Miao B;Gan W;Li D;Guo H

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PRCC-TFE3肾细胞癌是Xp11.2易位肾细胞癌最常见的类型之一,其诊断主要依靠逆转录-聚合酶链式反应或新鲜冰冻标本的染色体分析。在此,我们开发了一种新的双融合荧光原位杂交(FISH)探针,以简便地识别石蜡包埋组织中的PRCC-TFE3肾癌。应用免疫组织化学方法检测23例经分离的TFE3 FISH探针证实的Xp11.2tRCC组织中TFE3和组织蛋白酶K的表达。接下来,对这些选定的病例进行双融合FISH分析。选取20例典型透明肾细胞癌和20例乳头状肾细胞癌作为对照组。7例经FISH检测,出现双融合信号,最终确诊为PRCC-TFE3型肾癌,其中2例先前经RT-PCR确诊为PRCC-TFE3型肾癌。其余病例FISH均为PRCC-TFE3重排阴性。免疫组织化学TFE3阳性22例,组织蛋白酶K阳性16例。7例PRCC-TFE3肾癌组织蛋白酶K免疫反应阳性。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肾癌的一种有效而简便的技术。
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.
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