Abstract

NONO-TFE3 RCC is a subtype of Xp11.2 translocation renal cell carcinoma (RCC). So far, only a small amount of NONO-TFE3 RCC have been reported owing to lack of effective diagnosis methods. Utilizing the novel dual-fusion fluorescence in situ hybridization (FISH) probe reported here, 5 cases of NONO-TFE3 RCC were identified and were ultimately confirmed by RT-PCR. Histopathology, all 5 cases were consisted by sheets of epithelial cells and papillary architecture. The cytoplasm was abundantly clear, and nucleoli was not prominent. Besides, the nuclear palisading, subnuclear vacuoles and psammoma bodies were identified. The most distinctive features were strong positive TFE3 staining but equivocal split signals of the TFE3 probe, which might lead to the misdiagnosis of Xp11.2 translocation RCC. The median age and median tumor size of the five patients were 41.2 years and 3.6 cm, respectively. A median following follow-up of 27 months showed moderate disease progression and prognosis in NONO-TFE3 RCC patients. In conclusion, the present study demonstrates the effectiveness and reliability of the NONO-TFE3 dual-fusion FISH probe for diagnosing NONO-TFE3 RCC. Suspected cases of Xp11.2 translocation RCC showing biphasic pattern, strong positive TFE3 staining, and equivocal split signals in the TFE3 FISH assay indicated a possibility of NONO-TFE3 RCC.

Highlights

  • NONO-TFE3 RCC is a subtype of Xp11.2 translocation renal cell carcinoma (RCC)

  • Xp11.2 translocation RCC is a rare tumor which mainly occurs in children and young adults

  • Attention until 2004, when it was classified as a distinctive type of RCC by ­WHO18

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Summary

Introduction

NONO-TFE3 RCC is a subtype of Xp11.2 translocation renal cell carcinoma (RCC). So far, only a small amount of NONO-TFE3 RCC have been reported owing to lack of effective diagnosis methods. Utilizing the novel dual-fusion fluorescence in situ hybridization (FISH) probe reported here, 5 cases of NONOTFE3 RCC were identified and were confirmed by RT-PCR. The present study demonstrates the effectiveness and reliability of the NONO-TFE3 dual-fusion FISH probe for diagnosing NONO-TFE3 RCC. Suspected cases of Xp11.2 translocation RCC showing biphasic pattern, strong positive TFE3 staining, and equivocal split signals in the TFE3 FISH assay indicated a possibility of NONO-TFE3 RCC. The adjacent location of NONO and TFE3 genes result in an equivocal split signal distance of TFE3, which leads to the misdiagnosis of NONO-TFE3 RCC as non-Xp11.2 translocation RCC9​,15. We designed a novel NONO-TFE3 dual-fusion FISH assay and identified five cases of NONO-TFE3 RCC based on our FISH probe. The present study was designed to determine the effectiveness of the novel assay and highlight the diagnostic potential of dual-fusion and single-fusion FISH assays

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