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