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

PLoS One. 2017 Sep 26;12(9):e0185337. doi: 10.1371/journal.pone.0185337. eCollection 2017.

Abstract

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.

MeSH terms

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
  • Carcinoma, Renal Cell / genetics*
  • Cell Cycle Proteins / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Kidney Neoplasms / genetics*
  • Neoplasm Proteins / genetics*
  • Paraffin Embedding

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Cell Cycle Proteins
  • Neoplasm Proteins
  • PRCC protein, human
  • TFE3 protein, human

Grant support

This research was supported by the National Natural Science Foundation of China (ID: 81572512) and Natural Science Foundation of Jiangsu Province (ID: BK20131281). The websites of the program are http://www.nsfc.gov.cn/ and http://www.jstd.gov.cn/. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.